Proband information



Proband id 2426
Systematic Name c.763C>T
Protein name p.Arg255*
Mutation type Nonsense
Domain TRD
Pathogenicity Mutation associated with disease
Detection Not known
Extent Exons 2-4
Carrier Y
Carrier result Researcher claims neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Congenital onset
Reference Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 27 :Bunyan, D.::
2 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 86 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 87 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 88 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 89 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 90 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 91 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
8 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 92 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
9 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 113 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krńmer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
10 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 114 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krńmer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
11 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 115 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krńmer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
12 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 198 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
13 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 199 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
14 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 200 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
15 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 214 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
16 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 215 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
17 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 216 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
18 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 240 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, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
19 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 241 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, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
20 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 242 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, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
21 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 243 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, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
22 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 244 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, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
23 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 245 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, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
24 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 277 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 278 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 303 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., Jńrvelń, I.:Neurology: 11245712
27 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 304 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., Jńrvelń, I.:Neurology: 11245712
28 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 305 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., Jńrvelń, I.:Neurology: 11245712
29 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 306 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., Jńrvelń, I.:Neurology: 11245712
30 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 307 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., Jńrvelń, I.:Neurology: 11245712
31 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 336 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 337 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 356 :::
34 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 357 :::
35 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 421 :::
36 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 427 A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening:Ellaway, C.J., Badawi, N., Raffaele, L., Christodoulou, J. and Leonard, H.:Clinical Dysmorphology: 11446411
37 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 462 :::
38 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 477 :::
39 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 480 :::
40 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 481 :::
41 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 948 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, CarriÚ, 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
42 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 935 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, CarriÚ, 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
43 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 898 :::
44 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome- 899 :::
45 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 896 :::
46 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 897 :::
47 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 895 :::
48 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 871 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
49 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 870 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
50 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 869 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
51 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Classical 842 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514
52 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1080 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
53 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1081 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
54 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1082 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
55 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1083 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
56 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1084 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1085 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1086 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1087 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1088 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1089 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1090 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1091 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1146 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
65 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1147 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Bela´d, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, ValÚrie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
66 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1169 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, CarriÚ, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
67 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1198 Prenatal diagnosis in Rett syndrome:Armstrong, J., Aibar, E., Pineda, M., PÚrez, M.M., Geßn, E., Carrera, M., Casas, C., MartÝnez, F., Monrˇs, E.:Fetal Diagnosis and Therapy: 12065946
68 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1207 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
69 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1213 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
70 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1220 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
71 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1322 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
72 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1323 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
73 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1324 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
74 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1325 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
75 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1326 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1327 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1328 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1329 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1330 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1331 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.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1408 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
82 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1409 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
83 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1450 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
84 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1451 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
85 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1469 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
86 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1470 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
87 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1471 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
88 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1472 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
89 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1473 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
90 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1494 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
91 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-classical 1510 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
92 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1511 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
93 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1512 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
94 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1513 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
95 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1514 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
96 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1591 :Bunyan, D.::
97 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1602 :Bunyan, D.::
98 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1605 :Bunyan, D.::
99 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1608 :Bunyan, D.::
100 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1623 :Bunyan, D.::
101 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1730 :Friez, Michael::
102 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1733 :Friez, Michael::
103 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1739 :Friez, Michael::
104 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1747 :Friez, Michael::
105 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1750 :Friez, Michael::
106 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1753 :Friez, Michael::
107 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1759 :Friez, Michael::
108 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1769 :Friez, Michael::
109 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1786 :Friez, Michael::
110 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1797 :Friez, Michael::
111 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1803 :Friez, Michael::
112 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 1804 :Friez, Michael::
113 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1854 :Bunyan, D.::
114 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1892 :::
115 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1893 :::
116 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1920 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
117 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1921 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
118 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1922 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
119 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1936 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
120 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1938 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
121 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1944 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
122 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1962 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
123 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1963 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
124 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2018 :::
125 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2020 :::
126 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2031 :::
127 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2034 :::
128 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Not Known 2042 :::
129 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2263 :Cardiff, UK::
130 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2264 :Cardiff, UK::
131 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2265 :Cardiff, UK::
132 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2266 :Cardiff, UK::
133 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2267 :Cardiff, UK::
134 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2268 :Cardiff, UK::
135 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2269 :Cardiff, UK::
136 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2270 :Cardiff, UK::
137 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2271 :Cardiff, UK::
138 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2272 :Cardiff, UK::
139 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2273 :Cardiff, UK::
140 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2274 :Cardiff, UK::
141 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2275 :Cardiff, UK::
142 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2276 :Cardiff, UK::
143 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2277 :Cardiff, UK::
144 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2278 :Cardiff, UK::
145 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2279 :Cardiff, UK::
146 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2280 :Cardiff, UK::
147 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2281 :Cardiff, UK::
148 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2282 :Cardiff, UK::
149 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2283 :Cardiff, UK::
150 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 2284 :Cardiff, UK::
151 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2285 :Cardiff, UK::
152 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2286 :Cardiff, UK::
153 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2398 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
154 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2402 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
155 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2412 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
156 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Congenital onset 2418 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
157 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Congenital onset 2426 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
158 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2431 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
159 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2433 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
160 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2434 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
161 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2446 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
162 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2459 :::
163 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2465 :::
164 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2473 :::
165 c.763C>T p.Arg255* Nonsense TRD Mutation associated with disease Female Rett syndrome-Forme fruste 2477 :::
166 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2599 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
167 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2600 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
168 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2601 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
169 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2602 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
170 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2603 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
171 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 2769 A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963
172 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2821 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
173 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2822 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
174 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2860 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic˛, R., Mangone, L.:American Journal of Medical Genetics: 12567420
175 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2879 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
176 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2897 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
177 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2898 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
178 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2899 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
179 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2940 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
180 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2965 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
181 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2966 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
182 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2967 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
183 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2981 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
184 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2982 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
185 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3005 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
186 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3041 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
187 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3042 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
188 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3061 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
189 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3201 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
190 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3202 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
191 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3203 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
192 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3204 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
193 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3205 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
194 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3206 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
195 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3207 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
196 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3208 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
197 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3209 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
198 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3210 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
199 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3211 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
200 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3212 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
201 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3213 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
202 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3214 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
203 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3215 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
204 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3216 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
205 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3370 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
206 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3371 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
207 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3372 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
208 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3373 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
209 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3479 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
210 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3480 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
211 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3481 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
212 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3482 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
213 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3483 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
214 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3484 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
215 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3485 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
216 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3486 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
217 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3487 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
218 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3488 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
219 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3489 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
220 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3490 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
221 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3491 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
222 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3579 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
223 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3580 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
224 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3581 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
225 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3582 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
226 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3583 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
227 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3706 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
228 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3707 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
229 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3708 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
230 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3709 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
231 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3710 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
232 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3711 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
233 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3712 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
234 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3713 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
235 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3714 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
236 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3715 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
237 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3716 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
238 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3805 Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559
239 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3813 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
240 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3814 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
241 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4145 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
242 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4146 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
243 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4147 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
244 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4148 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
245 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4261 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
246 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4262 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
247 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4263 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
248 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4264 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
249 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4265 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
250 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4307 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
251 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4377 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
252 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4378 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
253 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4379 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
254 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4380 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
255 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4381 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
256 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4482 :Das, S., Dempsey, M. U. Chicago::
257 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Rett synd. 4483 :Das, S., Dempsey, M. U. Chicago::
258 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4484 :Das, S., Dempsey, M. U. Chicago::
259 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4485 :Das, S., Dempsey, M. U. Chicago::
260 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4486 :Das, S., Dempsey, M. U. Chicago::
261 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4487 :Das, S., Dempsey, M. U. Chicago::
262 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4488 :Das, S., Dempsey, M. U. Chicago::
263 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4489 :Das, S., Dempsey, M. U. Chicago::
264 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Known 4490 :Das, S., Dempsey, M. U. Chicago::
265 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4717 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
266 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4718 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
267 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4719 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
268 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4720 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
269 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4813 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
270 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4845 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
271 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 4846 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
272 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4875 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
273 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4876 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
274 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4912 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
275 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4925 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
276 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4926 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
277 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 5049 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
278 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 5050 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
279 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Not Rett synd. 5126 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
280 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6743 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
281 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6742 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
282 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6741 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
283 c.763C>T p.Arg255* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6740 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
284 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6460 :::
285 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6459 :::
286 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6458 :::
287 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6457 :::
288 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6456 :::
289 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6455 :::
290 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6454 :::
291 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6453 :::
292 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-congenital 6452 :::
293 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6451 :::
294 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6408 Rett syndrome is caused etc.:Amir et al.:Nature Genetics:
295 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6407 :::
296 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6405 :::
297 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6406 :::
298 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6404 :::
299 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6403 :::
300 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6402 :::
301 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6401 :::
302 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6400 :::
303 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6399 :::
304 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6398 :::
305 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6397 :::
306 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6396 :::
307 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6394 :::
308 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6395 :::
309 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6393 :::
310 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6392 :::
311 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6391 :::
312 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6390 :::
313 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6388 :::
314 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6389 :::
315 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6387 :::
316 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6386 :::
317 c.763C>T p.Arg255* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6385 :::
318 c.763C>T nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 6897 :::