Proband information



Proband id 3789
Systematic Name c.473C>T
Protein name p.Thr158Met
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Detection direct
Extent exons 2-4
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Rett syndrome-Male variant 61 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 62 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
3 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 63 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
4 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 64 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
5 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 65 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
6 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 66 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
7 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 67 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
8 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 68 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
9 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 69 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
10 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 70 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
11 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 71 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
12 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 72 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
13 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 108 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
14 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 109 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
15 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 139 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
16 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 145 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
17 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 146 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
18 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 163 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
19 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 164 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
20 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 165 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
21 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 166 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
22 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 167 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
23 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 192 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
24 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 193 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
25 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 228 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
26 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 229 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
27 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 230 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
28 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 267 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
29 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 268 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
30 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 295 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
31 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 296 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
32 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 297 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
33 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 298 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
34 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 299 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
35 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 354 :::
36 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 359 :::
37 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 363 :::
38 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 379 :::
39 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 402 :::
40 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 404 :::
41 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 405 :::
42 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 422 :::
43 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 434 :::
44 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 439 :::
45 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 447 :::
46 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 453 :::
47 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 461 :::
48 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 463 :::
49 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 465 :::
50 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Rett synd. 953 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
51 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 934 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
52 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 928 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
53 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 924 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
54 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 890 :::
55 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 888 :::
56 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 889 :::
57 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 886 :::
58 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 887 :::
59 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 884 :::
60 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 885 :::
61 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 868 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
62 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 841 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514
63 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1033 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
64 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1034 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
65 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1035 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
66 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1036 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
67 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1037 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
68 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1038 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
69 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1039 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
70 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1040 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
71 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1041 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
72 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1042 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
73 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1043 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
74 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1044 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
75 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1045 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
76 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1046 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
77 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1047 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
78 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1048 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
79 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1049 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
80 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1050 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
81 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1051 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
82 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1052 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
83 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1053 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
84 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1163 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
85 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1164 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
86 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1165 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
87 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1177 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
88 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1197 Prenatal diagnosis in Rett syndrome:Armstrong, J., Aibar, E., Pineda, M., Pérez, M.M., Geán, E., Carrera, M., Casas, C., Martínez, F., Monrós, E.:Fetal Diagnosis and Therapy: 12065946
89 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1212 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
90 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1214 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
91 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1217 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
92 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1226 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
93 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1245 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
94 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1246 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
95 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1293 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
96 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1294 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
97 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1295 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
98 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1296 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
99 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1297 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
100 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1298 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
101 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1299 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
102 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1300 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
103 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Rett syndrome-Classical 1387 Occurrence of Rett syndrome in boys:Leonard, Helen, Silberstein, Jon, Falk, Rena, Houwink-Manville, Isa, Ellaway, Carolyn, Raffaele, Linda S., Engerström, Ingegerd Witt, and Schanen, Carolyn:Journal of Child Neurology: 11392517
104 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1397 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
105 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1398 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
106 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1399 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
107 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1442 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
108 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1443 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
109 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1444 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
110 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1464 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
111 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1465 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
112 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1466 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
113 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Rett synd. 1479 Two affected boys in a Rett syndrome family:Villard, L., Kpebe, A., Cardoso, C., Chelly, J., Tardieu, M. and Fontes, M.:Neurology: 11071498
114 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Not Rett synd. 1480 Two affected boys in a Rett syndrome family:Villard, L., Kpebe, A., Cardoso, C., Chelly, J., Tardieu, M. and Fontes, M.:Neurology: 11071498
115 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1481 Two affected boys in a Rett syndrome family:Villard, L., Kpebe, A., Cardoso, C., Chelly, J., Tardieu, M. and Fontes, M.:Neurology: 11071498
116 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-classical 1506 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
117 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-classical 1507 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
118 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1508 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
119 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1509 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
120 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Rett synd. 1556 MECP2 mutation screening in Brazilian patients with Angelman syndrome-like phenotype:Fridman C, Varela MC, Koiffmann CP:American Journal of Human Genetics:
121 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-atypical 1559 :::
122 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1621 :Bunyan, D.::
123 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1645 :Bunyan, D.::
124 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1661 :Friez, Michael::
125 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1663 :Friez, Michael::
126 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1665 :Friez, Michael::
127 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1666 :Friez, Michael::
128 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1685 :Friez, Michael::
129 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1715 :Friez, Michael::
130 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1723 :Friez, Michael::
131 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1746 :Friez, Michael::
132 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1749 :Friez, Michael::
133 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1779 :Friez, Michael::
134 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 1802 :Friez, Michael::
135 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1836 :Bunyan, D.::
136 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1847 :Bunyan, D.::
137 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1855 :Bunyan, D.::
138 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1874 :Bunyan, D.::
139 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1886 :::
140 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1887 :::
141 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1927 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
142 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1931 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
143 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1933 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
144 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1935 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
145 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1941 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
146 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1947 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
147 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1948 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
148 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-classical 1950 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
149 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2001 Another Patient With MECP2 Mutation Without Classic Rett Syndrome Phenotype:Donatella Milani, Chiara Pantaleoni, Stefano D’Arrigo, Angelo Selicorni, and Daria Riva:Pediatric Neurology: 15866439
150 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2019 :::
151 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2046 :::
152 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Not Known 2066 :::
153 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2339 :Cardiff, UK::
154 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2340 :Cardiff, UK::
155 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2341 :Cardiff, UK::
156 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2342 :Cardiff, UK::
157 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2343 :Cardiff, UK::
158 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Not Rett synd. 2344 :Cardiff, UK::
159 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2345 :Cardiff, UK::
160 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2346 :Cardiff, UK::
161 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2347 :Cardiff, UK::
162 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2348 :Cardiff, UK::
163 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2349 :Cardiff, UK::
164 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2350 :Cardiff, UK::
165 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2351 :Cardiff, UK::
166 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2352 :Cardiff, UK::
167 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2353 :Cardiff, UK::
168 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 2354 :Cardiff, UK::
169 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2355 :Cardiff, UK::
170 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2356 :Cardiff, UK::
171 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2357 :Cardiff, UK::
172 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2358 :Cardiff, UK::
173 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2359 :Cardiff, UK::
174 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2360 :Cardiff, UK::
175 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2361 :Cardiff, UK::
176 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2362 :Cardiff, UK::
177 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2363 :Cardiff, UK::
178 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2364 :Cardiff, UK::
179 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2405 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
180 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Forme fruste 2415 :::
181 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2425 :::
182 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2428 :::
183 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2440 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
184 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2442 :::
185 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2444 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
186 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2448 :::
187 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2464 :::
188 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2472 :::
189 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Congenital onset 2478 :::
190 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2480 :::
191 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2483 :::
192 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2486 :::
193 c.473C>T p.Thr158Met Missense MBD Mutation associated with disease Male Not Rett synd. 2492 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
194 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 2540 The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617
195 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Male Rett syndrome-male variant 2548 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109
196 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Male Rett syndrome-male variant 2549 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109
197 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2582 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
198 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2583 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
199 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2584 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
200 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2585 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
201 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2586 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
202 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2587 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
203 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2588 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
204 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2589 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
205 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2590 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
206 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2591 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
207 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 2592 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.":Journal of Human Genetics: 17387578
208 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2807 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
209 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2808 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
210 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2809 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
211 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2810 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
212 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2854 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
213 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2855 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
214 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2873 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
215 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2874 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
216 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2893 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
217 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2894 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
218 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2935 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
219 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2936 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
220 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2937 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
221 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2959 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
222 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2960 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
223 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2961 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
224 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2962 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
225 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-atypical 2963 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
226 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2988 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954
227 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2989 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954
228 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2996 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
229 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2997 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
230 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2998 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
231 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 2999 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
232 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3038 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
233 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3039 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
234 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3068 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
235 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3069 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
236 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3070 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
237 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3071 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
238 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3072 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
239 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3073 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
240 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3074 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
241 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3075 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
242 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3076 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
243 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3118 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
244 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3119 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
245 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3120 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
246 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3121 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
247 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3122 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
248 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3123 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
249 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3124 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
250 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3125 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
251 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3126 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
252 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3127 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
253 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3128 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
254 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3129 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
255 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3130 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
256 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3131 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
257 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3132 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
258 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3133 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
259 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3134 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
260 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3135 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
261 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3136 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
262 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3137 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
263 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3374 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
264 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3375 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
265 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 3376 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
266 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3384 A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2:Nielsen JB, Ravn K, Schwartz M:Brain & Development: 11738879
267 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3390 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
268 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3391 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
269 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3392 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
270 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3442 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
271 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3443 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
272 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3444 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
273 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3445 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
274 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3446 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
275 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3447 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
276 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3448 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
277 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3449 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
278 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3450 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
279 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3543 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
280 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3544 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
281 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3545 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
282 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3546 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
283 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3547 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
284 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3548 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
285 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3549 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
286 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3550 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
287 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3551 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
288 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3552 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
289 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3553 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
290 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3554 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
291 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3555 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
292 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3556 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
293 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3557 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
294 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3654 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
295 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3655 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
296 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3656 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
297 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3657 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
298 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3658 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
299 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3659 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
300 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3660 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
301 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3661 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
302 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3662 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
303 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3663 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
304 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3664 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
305 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3665 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
306 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3666 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
307 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3667 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
308 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3668 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
309 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3669 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
310 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3670 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
311 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3671 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
312 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3672 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
313 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3673 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
314 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3674 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
315 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 3675 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
316 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3788 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
317 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3789 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
318 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 3792 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
319 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Rett synd. 3980 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109
320 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4063 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
321 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4064 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
322 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4065 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
323 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4109 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
324 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4110 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
325 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4111 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
326 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4112 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
327 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4113 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
328 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4114 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
329 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4115 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
330 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4116 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
331 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Rett synd. 5298 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973
332 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4231 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
333 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4232 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
334 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4233 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
335 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4234 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
336 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4235 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
337 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4236 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
338 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4237 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
339 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4238 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
340 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4239 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
341 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4240 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
342 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4301 Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224
343 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4302 Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224
344 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4303 Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224
345 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4304 Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224
346 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4312 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
347 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4364 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
348 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4365 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
349 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4366 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
350 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4367 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
351 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4368 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
352 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4369 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
353 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-Classical 4370 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
354 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4447 :Das, S., Dempsey, M. U. Chicago::
355 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4448 :Das, S., Dempsey, M. U. Chicago::
356 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4449 :Das, S., Dempsey, M. U. Chicago::
357 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4450 :Das, S., Dempsey, M. U. Chicago::
358 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4451 :Das, S., Dempsey, M. U. Chicago::
359 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4452 :Das, S., Dempsey, M. U. Chicago::
360 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Unknown Not Known 4453 :Das, S., Dempsey, M. U. Chicago::
361 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4454 :Das, S., Dempsey, M. U. Chicago::
362 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4455 :Das, S., Dempsey, M. U. Chicago::
363 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4456 :Das, S., Dempsey, M. U. Chicago::
364 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Not Known 4457 :Das, S., Dempsey, M. U. Chicago::
365 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4740 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
366 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4741 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
367 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4742 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
368 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4743 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
369 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4744 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
370 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4745 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
371 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4810 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873
372 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4836 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
373 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4837 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
374 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4838 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
375 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4839 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
376 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4868 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
377 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4869 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
378 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4906 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
379 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4907 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
380 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4918 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
381 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 4919 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
382 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 4923 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
383 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 5051 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
384 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 5052 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
385 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-not certain 5053 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
386 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 5125 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
387 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6736 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
388 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6735 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
389 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6733 :Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek::
390 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-congenital onset 6734 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
391 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6530 :::
392 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6529 :::
393 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6528 :::
394 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6527 :::
395 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6526 :::
396 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6525 :::
397 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6524 :::
398 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6523 :::
399 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6522 :::
400 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6521 :::
401 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6520 :::
402 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6519 :::
403 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6518 :::
404 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6517 :::
405 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6516 :::
406 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6515 :::
407 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6514 :::
408 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6513 :::
409 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6512 :::
410 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6511 :::
411 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6510 :::
412 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6509 :::
413 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6508 :::
414 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6507 :::
415 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6506 :::
416 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6505 :::
417 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6504 :::
418 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6503 :::
419 c.473C>T p.Thr158Met missense MBD Mutation associated with disease Female Rett syndrome-classical 6502 :::