Variant information


Systematic Name
(NM_004992.3:)
c.473C>T
Protein name
(NP_004983)
p.Thr158Met
Alternate systematic Name
(NM_001110792.1:)
c.509C>T
Alternate Protein name
(NP_001104262)
p.(Thr170Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296806G>A
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.473C>T p.Thr158Met 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 View details
2 c.473C>T p.Thr158Met 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 View details
3 c.473C>T p.Thr158Met 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 View details
4 c.473C>T p.Thr158Met 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 View details
5 c.473C>T p.Thr158Met 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 View details
6 c.473C>T p.Thr158Met 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 View details
7 c.473C>T p.Thr158Met 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 View details
8 c.473C>T p.Thr158Met 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 View details
9 c.473C>T p.Thr158Met 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 View details
10 c.473C>T p.Thr158Met 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 View details
11 c.473C>T p.Thr158Met 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 View details
12 c.473C>T p.Thr158Met 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 View details
13 c.473C>T p.Thr158Met 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 View details
14 c.473C>T p.Thr158Met 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 View details
15 c.473C>T p.Thr158Met 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 View details
16 c.473C>T p.Thr158Met 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 View details
17 c.473C>T p.Thr158Met 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 View details
18 c.473C>T p.Thr158Met 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 View details
19 c.473C>T p.Thr158Met 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 View details
20 c.473C>T p.Thr158Met 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 View details
21 c.473C>T p.Thr158Met 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 View details
22 c.473C>T p.Thr158Met 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 View details
23 c.473C>T p.Thr158Met 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 View details
24 c.473C>T p.Thr158Met 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 View details
25 c.473C>T p.Thr158Met 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 View details
26 c.473C>T p.Thr158Met 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 View details
27 c.473C>T p.Thr158Met 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 View details
28 c.473C>T p.Thr158Met 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 View details
29 c.473C>T p.Thr158Met 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 View details
30 c.473C>T p.Thr158Met 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 View details
31 c.473C>T p.Thr158Met 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 View details
32 c.473C>T p.Thr158Met 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 View details
33 c.473C>T p.Thr158Met 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 View details
34 c.473C>T p.Thr158Met 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 View details
35 c.473C>T p.Thr158Met Female Rett syndrome-Classical 354 ::: View details
36 c.473C>T p.Thr158Met Female Rett syndrome-Classical 359 ::: View details
37 c.473C>T p.Thr158Met Female Rett syndrome-Classical 363 ::: View details
38 c.473C>T p.Thr158Met Female Rett syndrome-Classical 379 ::: View details
39 c.473C>T p.Thr158Met Female Rett syndrome-Classical 402 ::: View details
40 c.473C>T p.Thr158Met Female Rett syndrome-Classical 404 ::: View details
41 c.473C>T p.Thr158Met Female Rett syndrome-Classical 405 ::: View details
42 c.473C>T p.Thr158Met Female Not Known 422 ::: View details
43 c.473C>T p.Thr158Met Female Rett syndrome-Classical 434 ::: View details
44 c.473C>T p.Thr158Met Female Rett syndrome-Atypical 439 ::: View details
45 c.473C>T p.Thr158Met Female Rett syndrome-Atypical 447 ::: View details
46 c.473C>T p.Thr158Met Female Rett syndrome-Classical 453 ::: View details
47 c.473C>T p.Thr158Met Female Rett syndrome-Classical 461 ::: View details
48 c.473C>T p.Thr158Met Female Rett syndrome-Classical 463 ::: View details
49 c.473C>T p.Thr158Met Female Rett syndrome-Classical 465 ::: View details
50 c.473C>T p.Thr158Met 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 View details
51 c.473C>T p.Thr158Met 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 View details
52 c.473C>T p.Thr158Met 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 View details
53 c.473C>T p.Thr158Met 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 View details
54 c.473C>T p.Thr158Met Unknown Rett syndrome-Forme fruste 890 ::: View details
55 c.473C>T p.Thr158Met Unknown Rett syndrome-Classical 888 ::: View details
56 c.473C>T p.Thr158Met Unknown Rett syndrome-Forme fruste 889 ::: View details
57 c.473C>T p.Thr158Met Unknown Rett syndrome-Classical 886 ::: View details
58 c.473C>T p.Thr158Met Unknown Rett syndrome-Classical 887 ::: View details
59 c.473C>T p.Thr158Met Unknown Rett syndrome-Classical 884 ::: View details
60 c.473C>T p.Thr158Met Unknown Rett syndrome-Classical 885 ::: View details
61 c.473C>T p.Thr158Met 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 View details
62 c.473C>T p.Thr158Met 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 View details
63 c.473C>T p.Thr158Met 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 View details
64 c.473C>T p.Thr158Met 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 View details
65 c.473C>T p.Thr158Met 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 View details
66 c.473C>T p.Thr158Met 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 View details
67 c.473C>T p.Thr158Met 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 View details
68 c.473C>T p.Thr158Met 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 View details
69 c.473C>T p.Thr158Met 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 View details
70 c.473C>T p.Thr158Met 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 View details
71 c.473C>T p.Thr158Met 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 View details
72 c.473C>T p.Thr158Met 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 View details
73 c.473C>T p.Thr158Met 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 View details
74 c.473C>T p.Thr158Met 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 View details
75 c.473C>T p.Thr158Met 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 View details
76 c.473C>T p.Thr158Met 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 View details
77 c.473C>T p.Thr158Met 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 View details
78 c.473C>T p.Thr158Met 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 View details
79 c.473C>T p.Thr158Met 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 View details
80 c.473C>T p.Thr158Met 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 View details
81 c.473C>T p.Thr158Met 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 View details
82 c.473C>T p.Thr158Met 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 View details
83 c.473C>T p.Thr158Met 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 View details
84 c.473C>T p.Thr158Met 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 View details
85 c.473C>T p.Thr158Met 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 View details
86 c.473C>T p.Thr158Met 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 View details
87 c.473C>T p.Thr158Met 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 View details
88 c.473C>T p.Thr158Met 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 View details
89 c.473C>T p.Thr158Met 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 View details
90 c.473C>T p.Thr158Met 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 View details
91 c.473C>T p.Thr158Met 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 View details
92 c.473C>T p.Thr158Met 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 View details
93 c.473C>T p.Thr158Met 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 View details
94 c.473C>T p.Thr158Met 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 View details
95 c.473C>T p.Thr158Met 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 View details
96 c.473C>T p.Thr158Met 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 View details
97 c.473C>T p.Thr158Met 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 View details
98 c.473C>T p.Thr158Met 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 View details
99 c.473C>T p.Thr158Met 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 View details
100 c.473C>T p.Thr158Met 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 View details
101 c.473C>T p.Thr158Met 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 View details
102 c.473C>T p.Thr158Met 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 View details
103 c.473C>T p.Thr158Met 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 View details
104 c.473C>T p.Thr158Met 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 View details
105 c.473C>T p.Thr158Met 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 View details
106 c.473C>T p.Thr158Met 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 View details
107 c.473C>T p.Thr158Met 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 View details
108 c.473C>T p.Thr158Met 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 View details
109 c.473C>T p.Thr158Met 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 View details
110 c.473C>T p.Thr158Met 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 View details
111 c.473C>T p.Thr158Met 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 View details
112 c.473C>T p.Thr158Met 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 View details
113 c.473C>T p.Thr158Met 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 View details
114 c.473C>T p.Thr158Met 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 View details
115 c.473C>T p.Thr158Met 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 View details
116 c.473C>T p.Thr158Met 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 View details
117 c.473C>T p.Thr158Met 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 View details
118 c.473C>T p.Thr158Met 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 View details
119 c.473C>T p.Thr158Met 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 View details
120 c.473C>T p.Thr158Met 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: View details
121 c.473C>T p.Thr158Met Female Rett syndrome-atypical 1559 ::: View details
122 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1621 :Bunyan, D.:: View details
123 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1645 :Bunyan, D.:: View details
124 c.473C>T p.Thr158Met Female Not Known 1661 :Friez, Michael:: View details
125 c.473C>T p.Thr158Met Female Not Known 1663 :Friez, Michael:: View details
126 c.473C>T p.Thr158Met Female Not Known 1665 :Friez, Michael:: View details
127 c.473C>T p.Thr158Met Female Not Known 1666 :Friez, Michael:: View details
128 c.473C>T p.Thr158Met Female Not Known 1685 :Friez, Michael:: View details
129 c.473C>T p.Thr158Met Female Not Known 1715 :Friez, Michael:: View details
130 c.473C>T p.Thr158Met Female Not Known 1723 :Friez, Michael:: View details
131 c.473C>T p.Thr158Met Female Not Known 1746 :Friez, Michael:: View details
132 c.473C>T p.Thr158Met Female Not Known 1749 :Friez, Michael:: View details
133 c.473C>T p.Thr158Met Female Not Known 1779 :Friez, Michael:: View details
134 c.473C>T p.Thr158Met Female Not Known 1802 :Friez, Michael:: View details
135 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1836 :Bunyan, D.:: View details
136 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1847 :Bunyan, D.:: View details
137 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1855 :Bunyan, D.:: View details
138 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1874 :Bunyan, D.:: View details
139 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1886 ::: View details
140 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 1887 ::: View details
141 c.473C>T p.Thr158Met 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 View details
142 c.473C>T p.Thr158Met 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 View details
143 c.473C>T p.Thr158Met 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 View details
144 c.473C>T p.Thr158Met 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 View details
145 c.473C>T p.Thr158Met 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 View details
146 c.473C>T p.Thr158Met 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 View details
147 c.473C>T p.Thr158Met 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 View details
148 c.473C>T p.Thr158Met 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 View details
149 c.473C>T p.Thr158Met 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 View details
150 c.473C>T p.Thr158Met Female Not Known 2019 ::: View details
151 c.473C>T p.Thr158Met Female Not Known 2046 ::: View details
152 c.473C>T p.Thr158Met Female Not Known 2066 ::: View details
153 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2339 :Cardiff, UK:: View details
154 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2340 :Cardiff, UK:: View details
155 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2341 :Cardiff, UK:: View details
156 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 2342 :Cardiff, UK:: View details
157 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 2343 :Cardiff, UK:: View details
158 c.473C>T p.Thr158Met Male Not Rett synd. 2344 :Cardiff, UK:: View details
159 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2345 :Cardiff, UK:: View details
160 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 2346 :Cardiff, UK:: View details
161 c.473C>T p.Thr158Met Female Rett syndrome-Atypical 2347 :Cardiff, UK:: View details
162 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2348 :Cardiff, UK:: View details
163 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2349 :Cardiff, UK:: View details
164 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2350 :Cardiff, UK:: View details
165 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 2351 :Cardiff, UK:: View details
166 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2352 :Cardiff, UK:: View details
167 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2353 :Cardiff, UK:: View details
168 c.473C>T p.Thr158Met Female Rett syndrome-Not certain 2354 :Cardiff, UK:: View details
169 c.473C>T p.Thr158Met Female Rett syndrome-Atypical 2355 :Cardiff, UK:: View details
170 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2356 :Cardiff, UK:: View details
171 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2357 :Cardiff, UK:: View details
172 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2358 :Cardiff, UK:: View details
173 c.473C>T p.Thr158Met Female Rett syndrome-Atypical 2359 :Cardiff, UK:: View details
174 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2360 :Cardiff, UK:: View details
175 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2361 :Cardiff, UK:: View details
176 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2362 :Cardiff, UK:: View details
177 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2363 :Cardiff, UK:: View details
178 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2364 :Cardiff, UK:: View details
179 c.473C>T p.Thr158Met 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 View details
180 c.473C>T p.Thr158Met Female Rett syndrome-Forme fruste 2415 ::: View details
181 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2425 ::: View details
182 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2428 ::: View details
183 c.473C>T p.Thr158Met 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 View details
184 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2442 ::: View details
185 c.473C>T p.Thr158Met 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 View details
186 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2448 ::: View details
187 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2464 ::: View details
188 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2472 ::: View details
189 c.473C>T p.Thr158Met Female Rett syndrome-Congenital onset 2478 ::: View details
190 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2480 ::: View details
191 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2483 ::: View details
192 c.473C>T p.Thr158Met Female Rett syndrome-Classical 2486 ::: View details
193 c.473C>T p.Thr158Met 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 View details
194 c.473C>T p.Thr158Met 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 View details
195 c.473C>T p.Thr158Met Male Rett syndrome-male variant 2548 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109 View details
196 c.473C>T p.Thr158Met Male Rett syndrome-male variant 2549 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109 View details
197 c.473C>T p.Thr158Met 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 View details
198 c.473C>T p.Thr158Met 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 View details
199 c.473C>T p.Thr158Met 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 View details
200 c.473C>T p.Thr158Met 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 View details
201 c.473C>T p.Thr158Met 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 View details
202 c.473C>T p.Thr158Met 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 View details
203 c.473C>T p.Thr158Met 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 View details
204 c.473C>T p.Thr158Met 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 View details
205 c.473C>T p.Thr158Met 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 View details
206 c.473C>T p.Thr158Met 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 View details
207 c.473C>T p.Thr158Met 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 View details
208 c.473C>T p.Thr158Met 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 View details
209 c.473C>T p.Thr158Met 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 View details
210 c.473C>T p.Thr158Met 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 View details
211 c.473C>T p.Thr158Met 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 View details
212 c.473C>T p.Thr158Met 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 View details
213 c.473C>T p.Thr158Met 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 View details
214 c.473C>T p.Thr158Met 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 View details
215 c.473C>T p.Thr158Met 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 View details
216 c.473C>T p.Thr158Met 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 View details
217 c.473C>T p.Thr158Met 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 View details
218 c.473C>T p.Thr158Met 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 View details
219 c.473C>T p.Thr158Met 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 View details
220 c.473C>T p.Thr158Met 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 View details
221 c.473C>T p.Thr158Met 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 View details
222 c.473C>T p.Thr158Met 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 View details
223 c.473C>T p.Thr158Met 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 View details
224 c.473C>T p.Thr158Met 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 View details
225 c.473C>T p.Thr158Met 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 View details
226 c.473C>T p.Thr158Met 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 View details
227 c.473C>T p.Thr158Met 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 View details
228 c.473C>T p.Thr158Met 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 View details
229 c.473C>T p.Thr158Met 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 View details
230 c.473C>T p.Thr158Met 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 View details
231 c.473C>T p.Thr158Met 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 View details
232 c.473C>T p.Thr158Met 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 View details
233 c.473C>T p.Thr158Met 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 View details
234 c.473C>T p.Thr158Met 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 View details
235 c.473C>T p.Thr158Met 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 View details
236 c.473C>T p.Thr158Met 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 View details
237 c.473C>T p.Thr158Met 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 View details
238 c.473C>T p.Thr158Met 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 View details
239 c.473C>T p.Thr158Met 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 View details
240 c.473C>T p.Thr158Met 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 View details
241 c.473C>T p.Thr158Met 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 View details
242 c.473C>T p.Thr158Met 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 View details
243 c.473C>T p.Thr158Met 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 View details
244 c.473C>T p.Thr158Met 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 View details
245 c.473C>T p.Thr158Met 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 View details
246 c.473C>T p.Thr158Met 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 View details
247 c.473C>T p.Thr158Met 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 View details
248 c.473C>T p.Thr158Met 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 View details
249 c.473C>T p.Thr158Met 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 View details
250 c.473C>T p.Thr158Met 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 View details
251 c.473C>T p.Thr158Met 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 View details
252 c.473C>T p.Thr158Met 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 View details
253 c.473C>T p.Thr158Met 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 View details
254 c.473C>T p.Thr158Met 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 View details
255 c.473C>T p.Thr158Met 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 View details
256 c.473C>T p.Thr158Met 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 View details
257 c.473C>T p.Thr158Met 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 View details
258 c.473C>T p.Thr158Met 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 View details
259 c.473C>T p.Thr158Met 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 View details
260 c.473C>T p.Thr158Met 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 View details
261 c.473C>T p.Thr158Met 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 View details
262 c.473C>T p.Thr158Met 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 View details
263 c.473C>T p.Thr158Met 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 View details
264 c.473C>T p.Thr158Met 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 View details
265 c.473C>T p.Thr158Met 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 View details
266 c.473C>T p.Thr158Met 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 View details
267 c.473C>T p.Thr158Met 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 View details
268 c.473C>T p.Thr158Met 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 View details
269 c.473C>T p.Thr158Met 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 View details
270 c.473C>T p.Thr158Met 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 View details
271 c.473C>T p.Thr158Met 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 View details
272 c.473C>T p.Thr158Met 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 View details
273 c.473C>T p.Thr158Met 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 View details
274 c.473C>T p.Thr158Met 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 View details
275 c.473C>T p.Thr158Met 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 View details
276 c.473C>T p.Thr158Met 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 View details
277 c.473C>T p.Thr158Met 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 View details
278 c.473C>T p.Thr158Met 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 View details
279 c.473C>T p.Thr158Met 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 View details
280 c.473C>T p.Thr158Met 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 View details
281 c.473C>T p.Thr158Met 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 View details
282 c.473C>T p.Thr158Met 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 View details
283 c.473C>T p.Thr158Met 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 View details
284 c.473C>T p.Thr158Met 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 View details
285 c.473C>T p.Thr158Met 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 View details
286 c.473C>T p.Thr158Met 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 View details
287 c.473C>T p.Thr158Met 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 View details
288 c.473C>T p.Thr158Met 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 View details
289 c.473C>T p.Thr158Met 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 View details
290 c.473C>T p.Thr158Met 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 View details
291 c.473C>T p.Thr158Met 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 View details
292 c.473C>T p.Thr158Met 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 View details
293 c.473C>T p.Thr158Met 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 View details
294 c.473C>T p.Thr158Met 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 View details
295 c.473C>T p.Thr158Met 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 View details
296 c.473C>T p.Thr158Met 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 View details
297 c.473C>T p.Thr158Met 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 View details
298 c.473C>T p.Thr158Met 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 View details
299 c.473C>T p.Thr158Met 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 View details
300 c.473C>T p.Thr158Met 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 View details
301 c.473C>T p.Thr158Met 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 View details
302 c.473C>T p.Thr158Met 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 View details
303 c.473C>T p.Thr158Met 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 View details
304 c.473C>T p.Thr158Met 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 View details
305 c.473C>T p.Thr158Met 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 View details
306 c.473C>T p.Thr158Met 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 View details
307 c.473C>T p.Thr158Met 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 View details
308 c.473C>T p.Thr158Met 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 View details
309 c.473C>T p.Thr158Met 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 View details
310 c.473C>T p.Thr158Met 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 View details
311 c.473C>T p.Thr158Met 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 View details
312 c.473C>T p.Thr158Met 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 View details
313 c.473C>T p.Thr158Met 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 View details
314 c.473C>T p.Thr158Met 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 View details
315 c.473C>T p.Thr158Met 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 View details
316 c.473C>T p.Thr158Met 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 View details
317 c.473C>T p.Thr158Met 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 View details
318 c.473C>T p.Thr158Met 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 View details
319 c.473C>T p.Thr158Met Female Not Rett synd. 3980 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109 View details
320 c.473C>T p.Thr158Met Female Rett syndrome-not certain 4063 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 View details
321 c.473C>T p.Thr158Met Female Rett syndrome-not certain 4064 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 View details
322 c.473C>T p.Thr158Met Female Rett syndrome-not certain 4065 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 View details
323 c.473C>T p.Thr158Met 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 View details
324 c.473C>T p.Thr158Met 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 View details
325 c.473C>T p.Thr158Met 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 View details
326 c.473C>T p.Thr158Met 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 View details
327 c.473C>T p.Thr158Met 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 View details
328 c.473C>T p.Thr158Met 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 View details
329 c.473C>T p.Thr158Met 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 View details
330 c.473C>T p.Thr158Met 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 View details
331 c.473C>T p.Thr158Met 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 View details
332 c.473C>T p.Thr158Met 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 View details
333 c.473C>T p.Thr158Met 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 View details
334 c.473C>T p.Thr158Met 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 View details
335 c.473C>T p.Thr158Met 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 View details
336 c.473C>T p.Thr158Met 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 View details
337 c.473C>T p.Thr158Met 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 View details
338 c.473C>T p.Thr158Met 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 View details
339 c.473C>T p.Thr158Met 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 View details
340 c.473C>T p.Thr158Met 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 View details
341 c.473C>T p.Thr158Met 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 View details
342 c.473C>T p.Thr158Met 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 View details
343 c.473C>T p.Thr158Met 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 View details
344 c.473C>T p.Thr158Met 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 View details
345 c.473C>T p.Thr158Met 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 View details
346 c.473C>T p.Thr158Met 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 View details
347 c.473C>T p.Thr158Met 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 View details
348 c.473C>T p.Thr158Met 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 View details
349 c.473C>T p.Thr158Met 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 View details
350 c.473C>T p.Thr158Met 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 View details
351 c.473C>T p.Thr158Met 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 View details
352 c.473C>T p.Thr158Met 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 View details
353 c.473C>T p.Thr158Met 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 View details
354 c.473C>T p.Thr158Met Female Not Known 4447 :Das, S., Dempsey, M. U. Chicago:: View details
355 c.473C>T p.Thr158Met Female Not Known 4448 :Das, S., Dempsey, M. U. Chicago:: View details
356 c.473C>T p.Thr158Met Female Not Known 4449 :Das, S., Dempsey, M. U. Chicago:: View details
357 c.473C>T p.Thr158Met Female Not Known 4450 :Das, S., Dempsey, M. U. Chicago:: View details
358 c.473C>T p.Thr158Met Female Not Known 4451 :Das, S., Dempsey, M. U. Chicago:: View details
359 c.473C>T p.Thr158Met Female Not Known 4452 :Das, S., Dempsey, M. U. Chicago:: View details
360 c.473C>T p.Thr158Met Unknown Not Known 4453 :Das, S., Dempsey, M. U. Chicago:: View details
361 c.473C>T p.Thr158Met Female Not Known 4454 :Das, S., Dempsey, M. U. Chicago:: View details
362 c.473C>T p.Thr158Met Female Not Known 4455 :Das, S., Dempsey, M. U. Chicago:: View details
363 c.473C>T p.Thr158Met Female Not Known 4456 :Das, S., Dempsey, M. U. Chicago:: View details
364 c.473C>T p.Thr158Met Female Not Known 4457 :Das, S., Dempsey, M. U. Chicago:: View details
365 c.473C>T p.Thr158Met 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 View details
366 c.473C>T p.Thr158Met 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 View details
367 c.473C>T p.Thr158Met 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 View details
368 c.473C>T p.Thr158Met 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 View details
369 c.473C>T p.Thr158Met 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 View details
370 c.473C>T p.Thr158Met 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 View details
371 c.473C>T p.Thr158Met 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 View details
372 c.473C>T p.Thr158Met 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 View details
373 c.473C>T p.Thr158Met 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 View details
374 c.473C>T p.Thr158Met 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 View details
375 c.473C>T p.Thr158Met 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 View details
376 c.473C>T p.Thr158Met 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 View details
377 c.473C>T p.Thr158Met 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 View details
378 c.473C>T p.Thr158Met 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 View details
379 c.473C>T p.Thr158Met 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 View details
380 c.473C>T p.Thr158Met 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 View details
381 c.473C>T p.Thr158Met 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 View details
382 c.473C>T p.Thr158Met 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 View details
383 c.473C>T p.Thr158Met 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 View details
384 c.473C>T p.Thr158Met 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 View details
385 c.473C>T p.Thr158Met 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 View details
386 c.473C>T p.Thr158Met 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 View details
387 c.473C>T p.Thr158Met 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 View details
388 c.473C>T p.Thr158Met 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 View details
389 c.473C>T p.Thr158Met Female Rett syndrome-classical 6733 :Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:: View details
390 c.473C>T p.Thr158Met 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 View details
391 c.473C>T p.Thr158Met Female Rett syndrome-classical 6530 ::: View details
392 c.473C>T p.Thr158Met Female Rett syndrome-classical 6529 ::: View details
393 c.473C>T p.Thr158Met Female Rett syndrome-classical 6528 ::: View details
394 c.473C>T p.Thr158Met Female Rett syndrome-classical 6527 ::: View details
395 c.473C>T p.Thr158Met Female Rett syndrome-classical 6526 ::: View details
396 c.473C>T p.Thr158Met Female Rett syndrome-classical 6525 ::: View details
397 c.473C>T p.Thr158Met Female Rett syndrome-classical 6524 ::: View details
398 c.473C>T p.Thr158Met Female Rett syndrome-classical 6523 ::: View details
399 c.473C>T p.Thr158Met Female Rett syndrome-classical 6522 ::: View details
400 c.473C>T p.Thr158Met Female Rett syndrome-classical 6521 ::: View details
401 c.473C>T p.Thr158Met Female Rett syndrome-classical 6520 ::: View details
402 c.473C>T p.Thr158Met Female Rett syndrome-classical 6519 ::: View details
403 c.473C>T p.Thr158Met Female Rett syndrome-classical 6518 ::: View details
404 c.473C>T p.Thr158Met Female Rett syndrome-classical 6517 ::: View details
405 c.473C>T p.Thr158Met Female Rett syndrome-classical 6516 ::: View details
406 c.473C>T p.Thr158Met Female Rett syndrome-classical 6515 ::: View details
407 c.473C>T p.Thr158Met Female Rett syndrome-classical 6514 ::: View details
408 c.473C>T p.Thr158Met Female Rett syndrome-classical 6513 ::: View details
409 c.473C>T p.Thr158Met Female Rett syndrome-classical 6512 ::: View details
410 c.473C>T p.Thr158Met Female Rett syndrome-classical 6511 ::: View details
411 c.473C>T p.Thr158Met Female Rett syndrome-classical 6510 ::: View details
412 c.473C>T p.Thr158Met Female Rett syndrome-classical 6509 ::: View details
413 c.473C>T p.Thr158Met Female Rett syndrome-classical 6508 ::: View details
414 c.473C>T p.Thr158Met Female Rett syndrome-classical 6507 ::: View details
415 c.473C>T p.Thr158Met Female Rett syndrome-classical 6506 ::: View details
416 c.473C>T p.Thr158Met Female Rett syndrome-classical 6505 ::: View details
417 c.473C>T p.Thr158Met Female Rett syndrome-classical 6504 ::: View details
418 c.473C>T p.Thr158Met Female Rett syndrome-classical 6503 ::: View details
419 c.473C>T p.Thr158Met Female Rett syndrome-classical 6502 ::: View details
420 c.473C>T p.Thr158Met Female Rett syndrome-classical 7034 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 View details