Proband information



Proband id 197
Systematic Name c.502C>T
Protein name p.Arg168*
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease
Detection SSCP
Extent Exons 2-4
Carrier Y
Carrier result No unaffected relatives found to have disease-causing mutations
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 80 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 81 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
3 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 82 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
4 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 83 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
5 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 84 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
6 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 85 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
7 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 110 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
8 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 111 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
9 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 112 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
10 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 142 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
11 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 173 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
12 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 174 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
13 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 175 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
14 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 176 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
15 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 177 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
16 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 195 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
17 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 196 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
18 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 197 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
19 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 213 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
20 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 237 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
21 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 238 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
22 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 239 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
23 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 270 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
24 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 271 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
25 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 272 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
26 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 273 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
27 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 274 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
28 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 275 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
29 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 300 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
30 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 332 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
31 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 333 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
32 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 334 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
33 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 360 :::
34 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 397 :::
35 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 407 :::
36 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 408 :::
37 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 412 :::
38 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 416 :::
39 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 425 :::
40 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 428 :::
41 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 444 :::
42 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 457 :::
43 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 458 :::
44 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 471 :::
45 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 937 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
46 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 931 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
47 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 925 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
48 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 923 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
49 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 894 :::
50 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 892 :::
51 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 893 :::
52 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 891 :::
53 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 877 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
54 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 876 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
55 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 875 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
56 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1065 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
57 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1066 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
58 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1067 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
59 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1068 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
60 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1069 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
61 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1070 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
62 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1071 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
63 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1072 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
64 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1073 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
65 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1074 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
66 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1075 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
67 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1076 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
68 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1077 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
69 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1160 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
70 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1161 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
71 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1162 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
72 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1208 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
73 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1227 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
74 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1228 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
75 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1307 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
76 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1308 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
77 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1309 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
78 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1310 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
79 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1311 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
80 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1312 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
81 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1313 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
82 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1314 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
83 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1315 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
84 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1316 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
85 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1317 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
86 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1318 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
87 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 1319 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
88 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1377 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359
89 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1405 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
90 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1406 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
91 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1407 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
92 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1445 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
93 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1446 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
94 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1447 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
95 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1448 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
96 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1467 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
97 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1485 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
98 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1486 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
99 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1487 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
100 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1488 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
101 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1489 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
102 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Unknown Rett syndrome-Classical 1490 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
103 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1491 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
104 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1492 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
105 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Rett synd. 1493 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
106 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1601 :Bunyan, D.::
107 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1604 :Bunyan, D.::
108 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1642 :Bunyan, D.::
109 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1656 :::
110 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1660 :Friez, Michael::
111 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1664 :Friez, Michael::
112 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1667 :Friez, Michael::
113 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1676 :Friez, Michael::
114 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1683 :Friez, Michael::
115 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1691 :Friez, Michael::
116 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1692 :Friez, Michael::
117 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1696 :Friez, Michael::
118 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1697 :Friez, Michael::
119 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1710 :Friez, Michael::
120 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1714 :Friez, Michael::
121 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1720 :Friez, Michael::
122 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1761 :Friez, Michael::
123 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1796 :Friez, Michael::
124 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 1800 :Friez, Michael::
125 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1821 :Bunyan, D.::
126 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1861 :Bunyan, D.::
127 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1889 :::
128 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1890 :::
129 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-classical 1925 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
130 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-classical 1937 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
131 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1949 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
132 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1954 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
133 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-classical 1955 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
134 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-atypical 1960 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
135 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 2017 :::
136 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 2022 :::
137 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Not Known 2036 :::
138 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2227 :Cardiff, UK::
139 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2228 :Cardiff, UK::
140 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2229 :Cardiff, UK::
141 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 2230 :Cardiff, UK::
142 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2231 :Cardiff, UK::
143 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 2232 :Cardiff, UK::
144 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2233 :Cardiff, UK::
145 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2234 :Cardiff, UK::
146 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2235 :Cardiff, UK::
147 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2236 :Cardiff, UK::
148 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2237 :Cardiff, UK::
149 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2238 :Cardiff, UK::
150 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2239 :Cardiff, UK::
151 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2240 :Cardiff, UK::
152 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2241 :Cardiff, UK::
153 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2242 :Cardiff, UK::
154 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2243 :Cardiff, UK::
155 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2244 :Cardiff, UK::
156 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2245 :Cardiff, UK::
157 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2247 :Cardiff, UK::
158 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2248 :Cardiff, UK::
159 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2249 :Cardiff, UK::
160 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2250 :Cardiff, UK::
161 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2251 :Cardiff, UK::
162 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2252 :Cardiff, UK::
163 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2253 :Cardiff, UK::
164 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2254 :Cardiff, UK::
165 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 2255 :Cardiff, UK::
166 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2256 :Cardiff, UK::
167 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2257 :Cardiff, UK::
168 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2258 :Cardiff, UK::
169 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2259 :Cardiff, UK::
170 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2260 :Cardiff, UK::
171 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2261 :Cardiff, UK::
172 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2262 :Cardiff, UK::
173 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 2404 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
174 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Congenital onset 2406 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
175 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2420 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
176 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 2422 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
177 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2427 :::
178 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2441 :::
179 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2454 :::
180 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Congenital onset 2458 :::
181 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2462 :::
182 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2463 :::
183 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2469 :::
184 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Preserved speech 2474 :::
185 c.502C>T p.Arg168* Nonsense Inter-domain region Mutation associated with disease Female Rett syndrome-Congenital onset 2485 :::
186 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 2541 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
187 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2593 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
188 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2594 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
189 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2595 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
190 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2819 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
191 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2895 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
192 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2938 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
193 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2939 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
194 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-atypical 2964 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
195 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2978 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
196 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2979 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
197 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 2980 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
198 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3003 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
199 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3004 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
200 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3013 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
201 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3040 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
202 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3051 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
203 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3052 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
204 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3053 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
205 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3054 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
206 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3171 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
207 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3172 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
208 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3173 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
209 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3174 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
210 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3175 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
211 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3176 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
212 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3177 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
213 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3178 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
214 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3179 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
215 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3180 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
216 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3181 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
217 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3182 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
218 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3183 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
219 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3184 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
220 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3185 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
221 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3186 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
222 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3187 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
223 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3188 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
224 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3189 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
225 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3190 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
226 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3191 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
227 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3192 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
228 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3193 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
229 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3194 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
230 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3195 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
231 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3196 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
232 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3197 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
233 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3354 Trisomy 21 and Rett syndrome: a double burden:Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J:J Paediatr Child Health: 15228575
234 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3367 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
235 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3368 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
236 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3369 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
237 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3406 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
238 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3407 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
239 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3463 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
240 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3464 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
241 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3465 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
242 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3466 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
243 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3467 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
244 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3468 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
245 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3469 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
246 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3470 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
247 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3471 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
248 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3472 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
249 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3473 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
250 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3474 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
251 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3475 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
252 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3476 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
253 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3477 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
254 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3567 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
255 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3568 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
256 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3569 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
257 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3570 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
258 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3571 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
259 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3572 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
260 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3573 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
261 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3574 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
262 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3575 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
263 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3576 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
264 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3577 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
265 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3578 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
266 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3688 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
267 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3689 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
268 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3690 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
269 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3691 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
270 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3692 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
271 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3693 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
272 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3694 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
273 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3695 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
274 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3696 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
275 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3697 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
276 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3698 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
277 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3699 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
278 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3700 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
279 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3701 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
280 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3702 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
281 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3703 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
282 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3704 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
283 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3791 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
284 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 3815 Genetic testing in autism: how much is enough?:Herman, GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL:Genetics in Medicine: 17505203
285 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4067 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
286 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4140 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
287 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4141 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
288 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4142 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
289 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4143 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
290 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4144 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
291 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4251 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
292 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4252 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
293 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4253 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
294 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4254 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
295 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4255 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
296 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4256 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
297 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4257 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
298 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4258 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
299 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4259 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
300 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 4260 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
301 c.502C>T p.Arg168* nonsense MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-classical 4305 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
302 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4371 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
303 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4372 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
304 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-Atypical 4373 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
305 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4461 :Das, S., Dempsey, M. U. Chicago::
306 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4462 :Das, S., Dempsey, M. U. Chicago::
307 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4463 :Das, S., Dempsey, M. U. Chicago::
308 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4464 :Das, S., Dempsey, M. U. Chicago::
309 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Not Known 4465 :Das, S., Dempsey, M. U. Chicago::
310 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4715 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
311 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 4716 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
312 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4811 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
313 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4842 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
314 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4843 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
315 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4870 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
316 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4871 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
317 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4872 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
318 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-classical 4873 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
319 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5055 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
320 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5056 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
321 c.502C>T p.Arg168* nonsense inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5057 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
322 c.502C>T p.Arg168* nonsense Inter-domain region Mutation associated with disease Female Not Rett synd. 6737 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
323 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6501 :::
324 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6500 :::
325 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6499 :::
326 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6498 :::
327 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6497 :::
328 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6496 :::
329 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6495 :::
330 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6494 :::
331 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6493 :::
332 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6492 :::
333 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6491 :::
334 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6490 :::
335 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6489 :::
336 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6488 :::
337 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6487 :::
338 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6486 :::
339 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6485 :::
340 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6484 :::
341 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6483 :::
342 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6482 :::
343 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6481 :::
344 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6480 :::
345 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6479 :::
346 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6478 :::
347 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6477 :::
348 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6476 :::
349 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6475 :::
350 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6474 :::
351 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6473 :::
352 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6472 :::
353 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6471 :::
354 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6470 :::
355 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6469 :::
356 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6468 :::
357 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6467 :::
358 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6466 :::
359 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6465 :::
360 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6464 :::
361 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6463 :::
362 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6462 :::
363 c.502C>T p.Arg168* nonsense Inter-domain Mutation associated with disease Female Rett syndrome-classical 6461 :::