Proband information


Proband id 1325
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
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Mutation not carried by parents
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.763C>T p.Arg255* Female Rett syndrome-Not certain 27 :Bunyan, D.::
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
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
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
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
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
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
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
9 c.763C>T p.Arg255* Female Variation not found in parents 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* 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* Female Variation not found in parents 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* Female No unaffected relatives found to have disease-causing mutations 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* Female No unaffected relatives found to have disease-causing mutations 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* Female No unaffected relatives found to have disease-causing mutations 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* Female Neither parent is carrier 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* Female Neither parent is carrier 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* 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* 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* 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* 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* 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* Female Neither parent has variation 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* Female Neither parent has variation 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* Female Sister is not carrier, Mother is not carrier, Father is not carrier Rett syndrome-Classical 356 :::
34 c.763C>T p.Arg255* Female Brain sample Rett syndrome-Not certain 357 :::
35 c.763C>T p.Arg255* Female Mother is not carrier Rett syndrome-Atypical 421 :::
36 c.763C>T p.Arg255* Female Mother is not carrier, Father is not carrier 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* Female Rett syndrome-Atypical 462 :::
38 c.763C>T p.Arg255* Female Mother is not carrier, Sister is not carrier Not Known 477 :::
39 c.763C>T p.Arg255* Female Mother is not carrier Rett syndrome-Atypical 480 :::
40 c.763C>T p.Arg255* Female Mother is not carrier Not Known 481 :::
41 c.763C>T p.Arg255* Female Neither parent has variation 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* Female Neither parent has variation 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* Unknown Rett syndrome-Classical 898 :::
44 c.763C>T p.Arg255* Unknown Rett syndrome- 899 :::
45 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 896 :::
46 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 897 :::
47 c.763C>T p.Arg255* Unknown Rett syndrome-Classical 895 :::
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
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
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
51 c.763C>T p.Arg255* Unknown Not present in parents 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* Female unaffected mother is not carrier, unaffected father is not carrier, unaffected brother is not carrier, unborn sister not carrier 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* 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* 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* 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* Unknown Mutation not carried by parents 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* Female Neither parent has variation Rett syndrome-Not certain 1591 :Bunyan, D.::
97 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1602 :Bunyan, D.::
98 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1605 :Bunyan, D.::
99 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1608 :Bunyan, D.::
100 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1623 :Bunyan, D.::
101 c.763C>T p.Arg255* Female Not Known 1730 :Friez, Michael::
102 c.763C>T p.Arg255* Female Not Known 1733 :Friez, Michael::
103 c.763C>T p.Arg255* Female Not Known 1739 :Friez, Michael::
104 c.763C>T p.Arg255* Female Not Known 1747 :Friez, Michael::
105 c.763C>T p.Arg255* Female Not Known 1750 :Friez, Michael::
106 c.763C>T p.Arg255* Female Not Known 1753 :Friez, Michael::
107 c.763C>T p.Arg255* Female Not Known 1759 :Friez, Michael::
108 c.763C>T p.Arg255* Female Not Known 1769 :Friez, Michael::
109 c.763C>T p.Arg255* Female Not Known 1786 :Friez, Michael::
110 c.763C>T p.Arg255* Female Not Known 1797 :Friez, Michael::
111 c.763C>T p.Arg255* Female Not Known 1803 :Friez, Michael::
112 c.763C>T p.Arg255* Female Not Known 1804 :Friez, Michael::
113 c.763C>T p.Arg255* Female Neither parent has variation Rett syndrome-Not certain 1854 :Bunyan, D.::
114 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1892 :::
115 c.763C>T p.Arg255* Female Rett syndrome-Not certain 1893 :::
116 c.763C>T p.Arg255* Female Twin sister (thought to be monozygotic) has variation, sister with mild learning disability does not have variation 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* Female Twin sister (thought to be monozygotic) has variation, sister with mild learning disability does not have variation 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* 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* 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* 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* 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* 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* Female Neither parent has variation 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* Female Not Known 2018 :::
125 c.763C>T p.Arg255* Female Not Known 2020 :::
126 c.763C>T p.Arg255* Female Not Known 2031 :::
127 c.763C>T p.Arg255* Female Mother is not carrier Not Known 2034 :::
128 c.763C>T p.Arg255* Female Sister does not have variation Not Known 2042 :::
129 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2263 :Cardiff, UK::
130 c.763C>T p.Arg255* Female Rett syndrome-Classical 2264 :Cardiff, UK::
131 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2265 :Cardiff, UK::
132 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2266 :Cardiff, UK::
133 c.763C>T p.Arg255* Female Rett syndrome-Classical 2267 :Cardiff, UK::
134 c.763C>T p.Arg255* Female Rett syndrome-Classical 2268 :Cardiff, UK::
135 c.763C>T p.Arg255* Female Rett syndrome-Classical 2269 :Cardiff, UK::
136 c.763C>T p.Arg255* Female Rett syndrome-Classical 2270 :Cardiff, UK::
137 c.763C>T p.Arg255* Female Rett syndrome-Classical 2271 :Cardiff, UK::
138 c.763C>T p.Arg255* Female Rett syndrome-Classical 2272 :Cardiff, UK::
139 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2273 :Cardiff, UK::
140 c.763C>T p.Arg255* Female Rett syndrome-Classical 2274 :Cardiff, UK::
141 c.763C>T p.Arg255* Female Rett syndrome-Classical 2275 :Cardiff, UK::
142 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2276 :Cardiff, UK::
143 c.763C>T p.Arg255* Female Rett syndrome-Not certain 2277 :Cardiff, UK::
144 c.763C>T p.Arg255* Female Rett syndrome-Classical 2278 :Cardiff, UK::
145 c.763C>T p.Arg255* Female Rett syndrome-Classical 2279 :Cardiff, UK::
146 c.763C>T p.Arg255* Female Rett syndrome-Classical 2280 :Cardiff, UK::
147 c.763C>T p.Arg255* Female Rett syndrome-Classical 2281 :Cardiff, UK::
148 c.763C>T p.Arg255* Female Rett syndrome-Classical 2282 :Cardiff, UK::
149 c.763C>T p.Arg255* Female Rett syndrome-Classical 2283 :Cardiff, UK::
150 c.763C>T p.Arg255* Female Classic Rett syndrome twin sister has variation Rett syndrome-Atypical 2284 :Cardiff, UK::
151 c.763C>T p.Arg255* Female Atypical Rett syndrome twin sister has variation Rett syndrome-Classical 2285 :Cardiff, UK::
152 c.763C>T p.Arg255* Female Rett syndrome-Classical 2286 :Cardiff, UK::
153 c.763C>T p.Arg255* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation 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* 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* Female Researcher claims neither parent has variation 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* Female Researcher claims neither parent has variation Rett syndrome-Classical 2459 :::
163 c.763C>T p.Arg255* Female Researcher claims neither parent has variation Rett syndrome-Classical 2465 :::
164 c.763C>T p.Arg255* Female Researcher claims neither parent has variation Rett syndrome-Classical 2473 :::
165 c.763C>T p.Arg255* Female Researcher claims neither parent has variation Rett syndrome-Forme fruste 2477 :::
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
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
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
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
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
171 c.763C>T p.Arg255* Female de novo 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* 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* 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* Female de novo 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* 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* Female de novo 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* Female de novo 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* Female de novo 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* 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* 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* 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* 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* 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* 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* 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* Female de novo 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* Female de novo 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* Female de novo 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* 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* Female absent in mother, found in monozygotic twin 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* Female absent in mother, found in monozygotic twin 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* Female absent in mother 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* Female absent in mother 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* 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* Female father, maternal grandfather, maternal grandmother are all normal; mother is a carrier Not Known 4482 :Das, S., Dempsey, M. U. Chicago::
257 c.763C>T p.Arg255* Female not in parents but found in daughter in RTT Not Rett synd. 4483 :Das, S., Dempsey, M. U. Chicago::
258 c.763C>T p.Arg255* Female Not Known 4484 :Das, S., Dempsey, M. U. Chicago::
259 c.763C>T p.Arg255* Female Not Known 4485 :Das, S., Dempsey, M. U. Chicago::
260 c.763C>T p.Arg255* Female Not Known 4486 :Das, S., Dempsey, M. U. Chicago::
261 c.763C>T p.Arg255* Female Not Known 4487 :Das, S., Dempsey, M. U. Chicago::
262 c.763C>T p.Arg255* Female Not Known 4488 :Das, S., Dempsey, M. U. Chicago::
263 c.763C>T p.Arg255* Female Not Known 4489 :Das, S., Dempsey, M. U. Chicago::
264 c.763C>T p.Arg255* Female Not Known 4490 :Das, S., Dempsey, M. U. Chicago::
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
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
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
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
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
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
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
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
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
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
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
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
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
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
279 c.763C>T p.Arg255* Female de novo 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* Female Mother,Father-Negative 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* Female Mother-negative 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* Female Mother,Father-Negative 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* Female Mother,Father-Negative 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* Female Rett syndrome-classical 6460 :::
285 c.763C>T p.Arg255* Female Rett syndrome-classical 6459 :::
286 c.763C>T p.Arg255* Female Rett syndrome-classical 6458 :::
287 c.763C>T p.Arg255* Female Rett syndrome-classical 6457 :::
288 c.763C>T p.Arg255* Female Rett syndrome-classical 6456 :::
289 c.763C>T p.Arg255* Female Rett syndrome-classical 6455 :::
290 c.763C>T p.Arg255* Female Rett syndrome-classical 6454 :::
291 c.763C>T p.Arg255* Female Rett syndrome-classical 6453 :::
292 c.763C>T p.Arg255* Female Rett syndrome-congenital 6452 :::
293 c.763C>T p.Arg255* Female Rett syndrome-classical 6451 :::
294 c.763C>T p.Arg255* Female Rett syndrome-classical 6408 Rett syndrome is caused etc.:Amir et al.:Nature Genetics:
295 c.763C>T p.Arg255* Female Rett syndrome-classical 6407 :::
296 c.763C>T p.Arg255* Female Rett syndrome-classical 6405 :::
297 c.763C>T p.Arg255* Female Rett syndrome-classical 6406 :::
298 c.763C>T p.Arg255* Female Rett syndrome-classical 6404 :::
299 c.763C>T p.Arg255* Female Rett syndrome-classical 6403 :::
300 c.763C>T p.Arg255* Female Rett syndrome-classical 6402 :::
301 c.763C>T p.Arg255* Female Rett syndrome-classical 6401 :::
302 c.763C>T p.Arg255* Female Rett syndrome-classical 6400 :::
303 c.763C>T p.Arg255* Female Rett syndrome-classical 6399 :::
304 c.763C>T p.Arg255* Female Rett syndrome-classical 6398 :::
305 c.763C>T p.Arg255* Female Rett syndrome-classical 6397 :::
306 c.763C>T p.Arg255* Female Rett syndrome-classical 6396 :::
307 c.763C>T p.Arg255* Female Rett syndrome-classical 6394 :::
308 c.763C>T p.Arg255* Female Rett syndrome-classical 6395 :::
309 c.763C>T p.Arg255* Female Rett syndrome-classical 6393 :::
310 c.763C>T p.Arg255* Female Rett syndrome-classical 6392 :::
311 c.763C>T p.Arg255* Female Rett syndrome-classical 6391 :::
312 c.763C>T p.Arg255* Female Rett syndrome-classical 6390 :::
313 c.763C>T p.Arg255* Female Rett syndrome-classical 6388 :::
314 c.763C>T p.Arg255* Female Rett syndrome-classical 6389 :::
315 c.763C>T p.Arg255* Female Rett syndrome-classical 6387 :::
316 c.763C>T p.Arg255* Female Rett syndrome-classical 6386 :::
317 c.763C>T p.Arg255* Female Rett syndrome-classical 6385 :::
318 c.763C>T p.Arg255* Female de novo Rett syndrome-not certain 6897 :::
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