Variant information


Systematic Name
(NM_004992.3:)
c.763C>T
Protein name
(NP_004983)
p.Arg255*
Alternate systematic Name
(NM_001110792.1:)
c.799C>T
Alternate Protein name
(NP_001104262)
p.(Arg267*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296516G>A
Mutation type Nonsense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.763C>T p.Arg255* Female Rett syndrome-Not certain 27 :Bunyan, D.:: View details
2 c.763C>T p.Arg255* 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 View details
3 c.763C>T p.Arg255* 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 View details
4 c.763C>T p.Arg255* 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 View details
5 c.763C>T p.Arg255* 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 View details
6 c.763C>T p.Arg255* 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 View details
7 c.763C>T p.Arg255* 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 View details
8 c.763C>T p.Arg255* 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 View details
9 c.763C>T p.Arg255* 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 View details
10 c.763C>T p.Arg255* 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 View details
11 c.763C>T p.Arg255* 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 View details
12 c.763C>T p.Arg255* 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 View details
13 c.763C>T p.Arg255* 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 View details
14 c.763C>T p.Arg255* 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 View details
15 c.763C>T p.Arg255* 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 View details
16 c.763C>T p.Arg255* 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 View details
17 c.763C>T p.Arg255* 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 View details
18 c.763C>T p.Arg255* 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 View details
19 c.763C>T p.Arg255* 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 View details
20 c.763C>T p.Arg255* 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 View details
21 c.763C>T p.Arg255* 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 View details
22 c.763C>T p.Arg255* 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 View details
23 c.763C>T p.Arg255* 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 View details
24 c.763C>T p.Arg255* 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 View details
25 c.763C>T p.Arg255* 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 View details
26 c.763C>T p.Arg255* 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 View details
27 c.763C>T p.Arg255* 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 View details
28 c.763C>T p.Arg255* 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 View details
29 c.763C>T p.Arg255* 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 View details
30 c.763C>T p.Arg255* 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 View details
31 c.763C>T p.Arg255* 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 View details
32 c.763C>T p.Arg255* 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 View details
33 c.763C>T p.Arg255* Female Rett syndrome-Classical 356 ::: View details
34 c.763C>T p.Arg255* Female Rett syndrome-Not certain 357 ::: View details
35 c.763C>T p.Arg255* Female Rett syndrome-Atypical 421 ::: View details
36 c.763C>T p.Arg255* 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 View details
37 c.763C>T p.Arg255* Female Rett syndrome-Atypical 462 ::: View details
38 c.763C>T p.Arg255* Female Not Known 477 ::: View details
39 c.763C>T p.Arg255* Female Rett syndrome-Atypical 480 ::: View details
40 c.763C>T p.Arg255* Female Not Known 481 ::: View details
41 c.763C>T p.Arg255* 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 View details
42 c.763C>T p.Arg255* 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 View details
43 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 898 ::: View details
44 c.763C>T p.Arg255* Unknown Rett syndrome- 899 ::: View details
45 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 896 ::: View details
46 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 897 ::: View details
47 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 895 ::: View details
48 c.763C>T p.Arg255* 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 View details
49 c.763C>T p.Arg255* 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 View details
50 c.763C>T p.Arg255* 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 View details
51 c.763C>T p.Arg255* 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 View details
52 c.763C>T p.Arg255* 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 View details
53 c.763C>T p.Arg255* 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 View details
54 c.763C>T p.Arg255* 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 View details
55 c.763C>T p.Arg255* 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 View details
56 c.763C>T p.Arg255* 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 View details
57 c.763C>T p.Arg255* 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 View details
58 c.763C>T p.Arg255* 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 View details
59 c.763C>T p.Arg255* 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 View details
60 c.763C>T p.Arg255* 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 View details
61 c.763C>T p.Arg255* 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 View details
62 c.763C>T p.Arg255* 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 View details
63 c.763C>T p.Arg255* 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 View details
64 c.763C>T p.Arg255* 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 View details
65 c.763C>T p.Arg255* 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 View details
66 c.763C>T p.Arg255* 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 View details
67 c.763C>T p.Arg255* 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 View details
68 c.763C>T p.Arg255* 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 View details
69 c.763C>T p.Arg255* 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 View details
70 c.763C>T p.Arg255* 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 View details
71 c.763C>T p.Arg255* 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 View details
72 c.763C>T p.Arg255* 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 View details
73 c.763C>T p.Arg255* 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 View details
74 c.763C>T p.Arg255* 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 View details
75 c.763C>T p.Arg255* 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 View details
76 c.763C>T p.Arg255* 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 View details
77 c.763C>T p.Arg255* 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 View details
78 c.763C>T p.Arg255* 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 View details
79 c.763C>T p.Arg255* 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 View details
80 c.763C>T p.Arg255* 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 View details
81 c.763C>T p.Arg255* 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 View details
82 c.763C>T p.Arg255* 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 View details
83 c.763C>T p.Arg255* 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 View details
84 c.763C>T p.Arg255* 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 View details
85 c.763C>T p.Arg255* 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 View details
86 c.763C>T p.Arg255* 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 View details
87 c.763C>T p.Arg255* 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 View details
88 c.763C>T p.Arg255* 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 View details
89 c.763C>T p.Arg255* 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 View details
90 c.763C>T p.Arg255* 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 View details
91 c.763C>T p.Arg255* 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 View details
92 c.763C>T p.Arg255* 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 View details
93 c.763C>T p.Arg255* 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 View details
94 c.763C>T p.Arg255* 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 View details
95 c.763C>T p.Arg255* 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 View details
96 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1591 :Bunyan, D.:: View details
97 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1602 :Bunyan, D.:: View details
98 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1605 :Bunyan, D.:: View details
99 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1608 :Bunyan, D.:: View details
100 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1623 :Bunyan, D.:: View details
101 c.763C>T p.Arg255* Female Not Known 1730 :Friez, Michael:: View details
102 c.763C>T p.Arg255* Female Not Known 1733 :Friez, Michael:: View details
103 c.763C>T p.Arg255* Female Not Known 1739 :Friez, Michael:: View details
104 c.763C>T p.Arg255* Female Not Known 1747 :Friez, Michael:: View details
105 c.763C>T p.Arg255* Female Not Known 1750 :Friez, Michael:: View details
106 c.763C>T p.Arg255* Female Not Known 1753 :Friez, Michael:: View details
107 c.763C>T p.Arg255* Female Not Known 1759 :Friez, Michael:: View details
108 c.763C>T p.Arg255* Female Not Known 1769 :Friez, Michael:: View details
109 c.763C>T p.Arg255* Female Not Known 1786 :Friez, Michael:: View details
110 c.763C>T p.Arg255* Female Not Known 1797 :Friez, Michael:: View details
111 c.763C>T p.Arg255* Female Not Known 1803 :Friez, Michael:: View details
112 c.763C>T p.Arg255* Female Not Known 1804 :Friez, Michael:: View details
113 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1854 :Bunyan, D.:: View details
114 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1892 ::: View details
115 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1893 ::: View details
116 c.763C>T p.Arg255* 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 View details
117 c.763C>T p.Arg255* 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 View details
118 c.763C>T p.Arg255* 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 View details
119 c.763C>T p.Arg255* 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 View details
120 c.763C>T p.Arg255* 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 View details
121 c.763C>T p.Arg255* 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 View details
122 c.763C>T p.Arg255* 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 View details
123 c.763C>T p.Arg255* 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 View details
124 c.763C>T p.Arg255* Female Not Known 2018 ::: View details
125 c.763C>T p.Arg255* Female Not Known 2020 ::: View details
126 c.763C>T p.Arg255* Female Not Known 2031 ::: View details
127 c.763C>T p.Arg255* Female Not Known 2034 ::: View details
128 c.763C>T p.Arg255* Female Not Known 2042 ::: View details
129 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2263 :Cardiff, UK:: View details
130 c.763C>T p.Arg255* Female Rett syndrome-Classical 2264 :Cardiff, UK:: View details
131 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2265 :Cardiff, UK:: View details
132 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2266 :Cardiff, UK:: View details
133 c.763C>T p.Arg255* Female Rett syndrome-Classical 2267 :Cardiff, UK:: View details
134 c.763C>T p.Arg255* Female Rett syndrome-Classical 2268 :Cardiff, UK:: View details
135 c.763C>T p.Arg255* Female Rett syndrome-Classical 2269 :Cardiff, UK:: View details
136 c.763C>T p.Arg255* Female Rett syndrome-Classical 2270 :Cardiff, UK:: View details
137 c.763C>T p.Arg255* Female Rett syndrome-Classical 2271 :Cardiff, UK:: View details
138 c.763C>T p.Arg255* Female Rett syndrome-Classical 2272 :Cardiff, UK:: View details
139 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2273 :Cardiff, UK:: View details
140 c.763C>T p.Arg255* Female Rett syndrome-Classical 2274 :Cardiff, UK:: View details
141 c.763C>T p.Arg255* Female Rett syndrome-Classical 2275 :Cardiff, UK:: View details
142 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2276 :Cardiff, UK:: View details
143 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2277 :Cardiff, UK:: View details
144 c.763C>T p.Arg255* Female Rett syndrome-Classical 2278 :Cardiff, UK:: View details
145 c.763C>T p.Arg255* Female Rett syndrome-Classical 2279 :Cardiff, UK:: View details
146 c.763C>T p.Arg255* Female Rett syndrome-Classical 2280 :Cardiff, UK:: View details
147 c.763C>T p.Arg255* Female Rett syndrome-Classical 2281 :Cardiff, UK:: View details
148 c.763C>T p.Arg255* Female Rett syndrome-Classical 2282 :Cardiff, UK:: View details
149 c.763C>T p.Arg255* Female Rett syndrome-Classical 2283 :Cardiff, UK:: View details
150 c.763C>T p.Arg255* Female Rett syndrome-Atypical 2284 :Cardiff, UK:: View details
151 c.763C>T p.Arg255* Female Rett syndrome-Classical 2285 :Cardiff, UK:: View details
152 c.763C>T p.Arg255* Female Rett syndrome-Classical 2286 :Cardiff, UK:: View details
153 c.763C>T p.Arg255* 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 View details
154 c.763C>T p.Arg255* 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 View details
155 c.763C>T p.Arg255* 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 View details
156 c.763C>T p.Arg255* 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 View details
157 c.763C>T p.Arg255* 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 View details
158 c.763C>T p.Arg255* 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 View details
159 c.763C>T p.Arg255* 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 View details
160 c.763C>T p.Arg255* 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 View details
161 c.763C>T p.Arg255* 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 View details
162 c.763C>T p.Arg255* Female Rett syndrome-Classical 2459 ::: View details
163 c.763C>T p.Arg255* Female Rett syndrome-Classical 2465 ::: View details
164 c.763C>T p.Arg255* Female Rett syndrome-Classical 2473 ::: View details
165 c.763C>T p.Arg255* Female Rett syndrome-Forme fruste 2477 ::: View details
166 c.763C>T p.Arg255* 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 View details
167 c.763C>T p.Arg255* 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 View details
168 c.763C>T p.Arg255* 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 View details
169 c.763C>T p.Arg255* 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 View details
170 c.763C>T p.Arg255* 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 View details
171 c.763C>T p.Arg255* 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 View details
172 c.763C>T p.Arg255* 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 View details
173 c.763C>T p.Arg255* 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 View details
174 c.763C>T p.Arg255* 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 View details
175 c.763C>T p.Arg255* 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 View details
176 c.763C>T p.Arg255* 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 View details
177 c.763C>T p.Arg255* 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 View details
178 c.763C>T p.Arg255* 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 View details
179 c.763C>T p.Arg255* 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 View details
180 c.763C>T p.Arg255* 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 View details
181 c.763C>T p.Arg255* 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 View details
182 c.763C>T p.Arg255* 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 View details
183 c.763C>T p.Arg255* 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 View details
184 c.763C>T p.Arg255* 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 View details
185 c.763C>T p.Arg255* 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 View details
186 c.763C>T p.Arg255* 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 View details
187 c.763C>T p.Arg255* 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 View details
188 c.763C>T p.Arg255* 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 View details
189 c.763C>T p.Arg255* 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 View details
190 c.763C>T p.Arg255* 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 View details
191 c.763C>T p.Arg255* 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 View details
192 c.763C>T p.Arg255* 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 View details
193 c.763C>T p.Arg255* 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 View details
194 c.763C>T p.Arg255* 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 View details
195 c.763C>T p.Arg255* 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 View details
196 c.763C>T p.Arg255* 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 View details
197 c.763C>T p.Arg255* 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 View details
198 c.763C>T p.Arg255* 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 View details
199 c.763C>T p.Arg255* 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 View details
200 c.763C>T p.Arg255* 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 View details
201 c.763C>T p.Arg255* 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 View details
202 c.763C>T p.Arg255* 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 View details
203 c.763C>T p.Arg255* 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 View details
204 c.763C>T p.Arg255* 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 View details
205 c.763C>T p.Arg255* 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 View details
206 c.763C>T p.Arg255* 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 View details
207 c.763C>T p.Arg255* 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 View details
208 c.763C>T p.Arg255* 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 View details
209 c.763C>T p.Arg255* 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 View details
210 c.763C>T p.Arg255* 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 View details
211 c.763C>T p.Arg255* 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 View details
212 c.763C>T p.Arg255* 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 View details
213 c.763C>T p.Arg255* 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 View details
214 c.763C>T p.Arg255* 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 View details
215 c.763C>T p.Arg255* 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 View details
216 c.763C>T p.Arg255* 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 View details
217 c.763C>T p.Arg255* 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 View details
218 c.763C>T p.Arg255* 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 View details
219 c.763C>T p.Arg255* 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 View details
220 c.763C>T p.Arg255* 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 View details
221 c.763C>T p.Arg255* 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 View details
222 c.763C>T p.Arg255* 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 View details
223 c.763C>T p.Arg255* 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 View details
224 c.763C>T p.Arg255* 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 View details
225 c.763C>T p.Arg255* 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 View details
226 c.763C>T p.Arg255* 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 View details
227 c.763C>T p.Arg255* 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 View details
228 c.763C>T p.Arg255* 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 View details
229 c.763C>T p.Arg255* 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 View details
230 c.763C>T p.Arg255* 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 View details
231 c.763C>T p.Arg255* 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 View details
232 c.763C>T p.Arg255* 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 View details
233 c.763C>T p.Arg255* 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 View details
234 c.763C>T p.Arg255* 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 View details
235 c.763C>T p.Arg255* 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 View details
236 c.763C>T p.Arg255* 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 View details
237 c.763C>T p.Arg255* 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 View details
238 c.763C>T p.Arg255* 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 View details
239 c.763C>T p.Arg255* 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 View details
240 c.763C>T p.Arg255* 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 View details
241 c.763C>T p.Arg255* 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 View details
242 c.763C>T p.Arg255* 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 View details
243 c.763C>T p.Arg255* 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 View details
244 c.763C>T p.Arg255* 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 View details
245 c.763C>T p.Arg255* 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 View details
246 c.763C>T p.Arg255* 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 View details
247 c.763C>T p.Arg255* 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 View details
248 c.763C>T p.Arg255* 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 View details
249 c.763C>T p.Arg255* 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 View details
250 c.763C>T p.Arg255* 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 View details
251 c.763C>T p.Arg255* 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 View details
252 c.763C>T p.Arg255* 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 View details
253 c.763C>T p.Arg255* 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 View details
254 c.763C>T p.Arg255* 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 View details
255 c.763C>T p.Arg255* 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 View details
256 c.763C>T p.Arg255* Female Not Known 4482 :Das, S., Dempsey, M. U. Chicago:: View details
257 c.763C>T p.Arg255* Female Not Rett synd. 4483 :Das, S., Dempsey, M. U. Chicago:: View details
258 c.763C>T p.Arg255* Female Not Known 4484 :Das, S., Dempsey, M. U. Chicago:: View details
259 c.763C>T p.Arg255* Female Not Known 4485 :Das, S., Dempsey, M. U. Chicago:: View details
260 c.763C>T p.Arg255* Female Not Known 4486 :Das, S., Dempsey, M. U. Chicago:: View details
261 c.763C>T p.Arg255* Female Not Known 4487 :Das, S., Dempsey, M. U. Chicago:: View details
262 c.763C>T p.Arg255* Female Not Known 4488 :Das, S., Dempsey, M. U. Chicago:: View details
263 c.763C>T p.Arg255* Female Not Known 4489 :Das, S., Dempsey, M. U. Chicago:: View details
264 c.763C>T p.Arg255* Female Not Known 4490 :Das, S., Dempsey, M. U. Chicago:: View details
265 c.763C>T p.Arg255* 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 View details
266 c.763C>T p.Arg255* 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 View details
267 c.763C>T p.Arg255* 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 View details
268 c.763C>T p.Arg255* 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 View details
269 c.763C>T p.Arg255* 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 View details
270 c.763C>T p.Arg255* 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 View details
271 c.763C>T p.Arg255* 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 View details
272 c.763C>T p.Arg255* 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 View details
273 c.763C>T p.Arg255* 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 View details
274 c.763C>T p.Arg255* 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 View details
275 c.763C>T p.Arg255* 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 View details
276 c.763C>T p.Arg255* 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 View details
277 c.763C>T p.Arg255* 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 View details
278 c.763C>T p.Arg255* 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 View details
279 c.763C>T p.Arg255* 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 View details
280 c.763C>T p.Arg255* 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 View details
281 c.763C>T p.Arg255* 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 View details
282 c.763C>T p.Arg255* 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 View details
283 c.763C>T p.Arg255* 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 View details
284 c.763C>T p.Arg255* Female Rett syndrome-classical 6460 ::: View details
285 c.763C>T p.Arg255* Female Rett syndrome-classical 6459 ::: View details
286 c.763C>T p.Arg255* Female Rett syndrome-classical 6458 ::: View details
287 c.763C>T p.Arg255* Female Rett syndrome-classical 6457 ::: View details
288 c.763C>T p.Arg255* Female Rett syndrome-classical 6456 ::: View details
289 c.763C>T p.Arg255* Female Rett syndrome-classical 6455 ::: View details
290 c.763C>T p.Arg255* Female Rett syndrome-classical 6454 ::: View details
291 c.763C>T p.Arg255* Female Rett syndrome-classical 6453 ::: View details
292 c.763C>T p.Arg255* Female Rett syndrome-congenital 6452 ::: View details
293 c.763C>T p.Arg255* Female Rett syndrome-classical 6451 ::: View details
294 c.763C>T p.Arg255* Female Rett syndrome-classical 6408 Rett syndrome is caused etc.:Amir et al.:Nature Genetics: View details
295 c.763C>T p.Arg255* Female Rett syndrome-classical 6407 ::: View details
296 c.763C>T p.Arg255* Female Rett syndrome-classical 6405 ::: View details
297 c.763C>T p.Arg255* Female Rett syndrome-classical 6406 ::: View details
298 c.763C>T p.Arg255* Female Rett syndrome-classical 6404 ::: View details
299 c.763C>T p.Arg255* Female Rett syndrome-classical 6403 ::: View details
300 c.763C>T p.Arg255* Female Rett syndrome-classical 6402 ::: View details
301 c.763C>T p.Arg255* Female Rett syndrome-classical 6401 ::: View details
302 c.763C>T p.Arg255* Female Rett syndrome-classical 6400 ::: View details
303 c.763C>T p.Arg255* Female Rett syndrome-classical 6399 ::: View details
304 c.763C>T p.Arg255* Female Rett syndrome-classical 6398 ::: View details
305 c.763C>T p.Arg255* Female Rett syndrome-classical 6397 ::: View details
306 c.763C>T p.Arg255* Female Rett syndrome-classical 6396 ::: View details
307 c.763C>T p.Arg255* Female Rett syndrome-classical 6394 ::: View details
308 c.763C>T p.Arg255* Female Rett syndrome-classical 6395 ::: View details
309 c.763C>T p.Arg255* Female Rett syndrome-classical 6393 ::: View details
310 c.763C>T p.Arg255* Female Rett syndrome-classical 6392 ::: View details
311 c.763C>T p.Arg255* Female Rett syndrome-classical 6391 ::: View details
312 c.763C>T p.Arg255* Female Rett syndrome-classical 6390 ::: View details
313 c.763C>T p.Arg255* Female Rett syndrome-classical 6388 ::: View details
314 c.763C>T p.Arg255* Female Rett syndrome-classical 6389 ::: View details
315 c.763C>T p.Arg255* Female Rett syndrome-classical 6387 ::: View details
316 c.763C>T p.Arg255* Female Rett syndrome-classical 6386 ::: View details
317 c.763C>T p.Arg255* Female Rett syndrome-classical 6385 ::: View details
318 c.763C>T p.Arg255* Female Rett syndrome-not certain 6897 ::: View details
319 c.763C>T p.Arg255* Female Rett syndrome-classical 7037 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775 View details