Variant information
Systematic Name (NM_004992.3:) |
c.502C>T |
---|---|
Protein name (NP_004983) |
p.Arg168* |
Alternate systematic Name (NM_001110792.1:) |
c.538C>T |
Alternate Protein name (NP_001104262) |
p.(Arg180*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296777G>A |
Mutation type | Nonsense |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 80 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
2 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 81 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
3 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 82 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
4 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 83 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
5 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 84 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
6 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 85 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
7 | c.502C>T | p.Arg168* | Female | Rett syndrome-Preserved speech | 110 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
8 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 111 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
9 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 112 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
10 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 142 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 | View details |
11 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 173 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 | View details |
12 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 174 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 | View details |
13 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 175 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 | View details |
14 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 176 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 | View details |
15 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 177 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 | View details |
16 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 195 | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 | View details |
17 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 196 | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 | View details |
18 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 197 | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 | View details |
19 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 213 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
20 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 237 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |
21 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 238 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |
22 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 239 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |
23 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 270 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
24 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 271 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
25 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 272 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
26 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 273 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
27 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 274 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
28 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 275 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
29 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 300 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | View details |
30 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 332 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
31 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 333 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
32 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 334 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
33 | c.502C>T | p.Arg168* | Female | Not Known | 360 | ::: | View details |
34 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 397 | ::: | View details |
35 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 407 | ::: | View details |
36 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 408 | ::: | View details |
37 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 412 | ::: | View details |
38 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 416 | ::: | View details |
39 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 425 | ::: | View details |
40 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 428 | ::: | View details |
41 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 444 | ::: | View details |
42 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 457 | ::: | View details |
43 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 458 | ::: | View details |
44 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 471 | ::: | View details |
45 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 937 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 | View details |
46 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 931 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 | View details |
47 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 925 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 | View details |
48 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 923 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 | View details |
49 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 894 | ::: | View details |
50 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 892 | ::: | View details |
51 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 893 | ::: | View details |
52 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 891 | ::: | View details |
53 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 877 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | View details |
54 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 876 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | View details |
55 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 875 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | View details |
56 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1065 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
57 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1066 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
58 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1067 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
59 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1068 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
60 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1069 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
61 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1070 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
62 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1071 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
63 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1072 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
64 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1073 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
65 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1074 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
66 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1075 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
67 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1076 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
68 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1077 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
69 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1160 | Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 | View details |
70 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1161 | Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 | View details |
71 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1162 | Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764 | View details |
72 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1208 | Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 | View details |
73 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1227 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 | View details |
74 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1228 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 | View details |
75 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1307 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
76 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1308 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
77 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1309 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
78 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1310 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
79 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1311 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
80 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1312 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
81 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1313 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
82 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1314 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
83 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1315 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
84 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1316 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
85 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1317 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
86 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1318 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
87 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Not certain | 1319 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
88 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1377 | Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 | View details |
89 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1405 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
90 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1406 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
91 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1407 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
92 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1445 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
93 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1446 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
94 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1447 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
95 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1448 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
96 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 1467 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
97 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 1485 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
98 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 1486 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
99 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 1487 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
100 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 1488 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
101 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 1489 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
102 | c.502C>T | p.Arg168* | Unknown | Rett syndrome-Classical | 1490 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
103 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1491 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
104 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1492 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
105 | c.502C>T | p.Arg168* | Female | Not Rett synd. | 1493 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 | View details |
106 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1601 | :Bunyan, D.:: | View details |
107 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1604 | :Bunyan, D.:: | View details |
108 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1642 | :Bunyan, D.:: | View details |
109 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1656 | ::: | View details |
110 | c.502C>T | p.Arg168* | Female | Not Known | 1660 | :Friez, Michael:: | View details |
111 | c.502C>T | p.Arg168* | Female | Not Known | 1664 | :Friez, Michael:: | View details |
112 | c.502C>T | p.Arg168* | Female | Not Known | 1667 | :Friez, Michael:: | View details |
113 | c.502C>T | p.Arg168* | Female | Not Known | 1676 | :Friez, Michael:: | View details |
114 | c.502C>T | p.Arg168* | Female | Not Known | 1683 | :Friez, Michael:: | View details |
115 | c.502C>T | p.Arg168* | Female | Not Known | 1691 | :Friez, Michael:: | View details |
116 | c.502C>T | p.Arg168* | Female | Not Known | 1692 | :Friez, Michael:: | View details |
117 | c.502C>T | p.Arg168* | Female | Not Known | 1696 | :Friez, Michael:: | View details |
118 | c.502C>T | p.Arg168* | Female | Not Known | 1697 | :Friez, Michael:: | View details |
119 | c.502C>T | p.Arg168* | Female | Not Known | 1710 | :Friez, Michael:: | View details |
120 | c.502C>T | p.Arg168* | Female | Not Known | 1714 | :Friez, Michael:: | View details |
121 | c.502C>T | p.Arg168* | Female | Not Known | 1720 | :Friez, Michael:: | View details |
122 | c.502C>T | p.Arg168* | Female | Not Known | 1761 | :Friez, Michael:: | View details |
123 | c.502C>T | p.Arg168* | Female | Not Known | 1796 | :Friez, Michael:: | View details |
124 | c.502C>T | p.Arg168* | Female | Not Known | 1800 | :Friez, Michael:: | View details |
125 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1821 | :Bunyan, D.:: | View details |
126 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1861 | :Bunyan, D.:: | View details |
127 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1889 | ::: | View details |
128 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 1890 | ::: | View details |
129 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 1925 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |
130 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 1937 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |
131 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 1949 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |
132 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 1954 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |
133 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 1955 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |
134 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 1960 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | View details |
135 | c.502C>T | p.Arg168* | Female | Not Known | 2017 | ::: | View details |
136 | c.502C>T | p.Arg168* | Female | Not Known | 2022 | ::: | View details |
137 | c.502C>T | p.Arg168* | Female | Not Known | 2036 | ::: | View details |
138 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2227 | :Cardiff, UK:: | View details |
139 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2228 | :Cardiff, UK:: | View details |
140 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2229 | :Cardiff, UK:: | View details |
141 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 2230 | :Cardiff, UK:: | View details |
142 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2231 | :Cardiff, UK:: | View details |
143 | c.502C>T | p.Arg168* | Female | Rett syndrome-Not certain | 2232 | :Cardiff, UK:: | View details |
144 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2233 | :Cardiff, UK:: | View details |
145 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2234 | :Cardiff, UK:: | View details |
146 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2235 | :Cardiff, UK:: | View details |
147 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2236 | :Cardiff, UK:: | View details |
148 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2237 | :Cardiff, UK:: | View details |
149 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2238 | :Cardiff, UK:: | View details |
150 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2239 | :Cardiff, UK:: | View details |
151 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2240 | :Cardiff, UK:: | View details |
152 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2241 | :Cardiff, UK:: | View details |
153 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2242 | :Cardiff, UK:: | View details |
154 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2243 | :Cardiff, UK:: | View details |
155 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2244 | :Cardiff, UK:: | View details |
156 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2245 | :Cardiff, UK:: | View details |
157 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2247 | :Cardiff, UK:: | View details |
158 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2248 | :Cardiff, UK:: | View details |
159 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2249 | :Cardiff, UK:: | View details |
160 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2250 | :Cardiff, UK:: | View details |
161 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2251 | :Cardiff, UK:: | View details |
162 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2252 | :Cardiff, UK:: | View details |
163 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2253 | :Cardiff, UK:: | View details |
164 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2254 | :Cardiff, UK:: | View details |
165 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 2255 | :Cardiff, UK:: | View details |
166 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2256 | :Cardiff, UK:: | View details |
167 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2257 | :Cardiff, UK:: | View details |
168 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2258 | :Cardiff, UK:: | View details |
169 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2259 | :Cardiff, UK:: | View details |
170 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2260 | :Cardiff, UK:: | View details |
171 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2261 | :Cardiff, UK:: | View details |
172 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2262 | :Cardiff, UK:: | View details |
173 | c.502C>T | p.Arg168* | Female | Rett syndrome-Preserved speech | 2404 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 | View details |
174 | c.502C>T | p.Arg168* | Female | Rett syndrome-Congenital onset | 2406 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 | View details |
175 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2420 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 | View details |
176 | c.502C>T | p.Arg168* | Female | Rett syndrome-Preserved speech | 2422 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 | View details |
177 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2427 | ::: | View details |
178 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2441 | ::: | View details |
179 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2454 | ::: | View details |
180 | c.502C>T | p.Arg168* | Female | Rett syndrome-Congenital onset | 2458 | ::: | View details |
181 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2462 | ::: | View details |
182 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2463 | ::: | View details |
183 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2469 | ::: | View details |
184 | c.502C>T | p.Arg168* | Female | Rett syndrome-Preserved speech | 2474 | ::: | View details |
185 | c.502C>T | p.Arg168* | Female | Rett syndrome-Congenital onset | 2485 | ::: | View details |
186 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 2541 | The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617 | View details |
187 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2593 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
188 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2594 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
189 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 2595 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
190 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2819 | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 | View details |
191 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2895 | MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102 | View details |
192 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2938 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
193 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2939 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
194 | c.502C>T | p.Arg168* | Female | Rett syndrome-atypical | 2964 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
195 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2978 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | View details |
196 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2979 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | View details |
197 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 2980 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | View details |
198 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3003 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |
199 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3004 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |
200 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3013 | MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725 | View details |
201 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3040 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 | View details |
202 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3051 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
203 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3052 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
204 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3053 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
205 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3054 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
206 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3171 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
207 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3172 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
208 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3173 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
209 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3174 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
210 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3175 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
211 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3176 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
212 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3177 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
213 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3178 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
214 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3179 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
215 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3180 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
216 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3181 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
217 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3182 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
218 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3183 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
219 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3184 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
220 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3185 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
221 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3186 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
222 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3187 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
223 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3188 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
224 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3189 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
225 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3190 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
226 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3191 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
227 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3192 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
228 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3193 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
229 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3194 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
230 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3195 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
231 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3196 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
232 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3197 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
233 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3354 | Trisomy 21 and Rett syndrome: a double burden:Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J:J Paediatr Child Health: 15228575 | View details |
234 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3367 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 | View details |
235 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3368 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 | View details |
236 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3369 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 | View details |
237 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3406 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | View details |
238 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3407 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | View details |
239 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3463 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
240 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3464 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
241 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3465 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
242 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3466 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
243 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3467 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
244 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3468 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
245 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3469 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
246 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3470 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
247 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3471 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
248 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3472 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
249 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3473 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
250 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3474 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
251 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3475 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
252 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3476 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
253 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3477 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
254 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3567 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
255 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3568 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
256 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3569 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
257 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3570 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
258 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3571 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
259 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3572 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
260 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3573 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
261 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3574 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
262 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3575 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
263 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3576 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
264 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3577 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
265 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3578 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
266 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3688 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
267 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3689 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
268 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3690 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
269 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3691 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
270 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3692 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
271 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3693 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
272 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3694 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
273 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3695 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
274 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3696 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
275 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3697 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
276 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3698 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
277 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3699 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
278 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3700 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
279 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3701 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
280 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3702 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
281 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3703 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
282 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3704 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
283 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 3791 | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 | View details |
284 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 3815 | Genetic testing in autism: how much is enough?:Herman, GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL:Genetics in Medicine: 17505203 | View details |
285 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 4067 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 | View details |
286 | c.502C>T | p.Arg168* | Female | Not Known | 4140 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
287 | c.502C>T | p.Arg168* | Female | Not Known | 4141 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
288 | c.502C>T | p.Arg168* | Female | Not Known | 4142 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
289 | c.502C>T | p.Arg168* | Female | Not Known | 4143 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
290 | c.502C>T | p.Arg168* | Female | Not Known | 4144 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
291 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4251 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
292 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4252 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
293 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4253 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
294 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4254 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
295 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4255 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
296 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4256 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
297 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4257 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
298 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4258 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
299 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4259 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
300 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 4260 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
301 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4305 | Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224 | View details |
302 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4371 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |
303 | c.502C>T | p.Arg168* | Female | Rett syndrome-Classical | 4372 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |
304 | c.502C>T | p.Arg168* | Female | Rett syndrome-Atypical | 4373 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |
305 | c.502C>T | p.Arg168* | Female | Not Known | 4461 | :Das, S., Dempsey, M. U. Chicago:: | View details |
306 | c.502C>T | p.Arg168* | Female | Not Known | 4462 | :Das, S., Dempsey, M. U. Chicago:: | View details |
307 | c.502C>T | p.Arg168* | Female | Not Known | 4463 | :Das, S., Dempsey, M. U. Chicago:: | View details |
308 | c.502C>T | p.Arg168* | Female | Not Known | 4464 | :Das, S., Dempsey, M. U. Chicago:: | View details |
309 | c.502C>T | p.Arg168* | Female | Not Known | 4465 | :Das, S., Dempsey, M. U. Chicago:: | View details |
310 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 4715 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |
311 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 4716 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |
312 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4811 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | View details |
313 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4842 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | View details |
314 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4843 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | View details |
315 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4870 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
316 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4871 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
317 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4872 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
318 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 4873 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
319 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 5055 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
320 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 5056 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
321 | c.502C>T | p.Arg168* | Female | Rett syndrome-not certain | 5057 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
322 | c.502C>T | p.Arg168* | Female | Not Rett synd. | 6737 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | View details |
323 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6501 | ::: | View details |
324 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6500 | ::: | View details |
325 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6499 | ::: | View details |
326 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6498 | ::: | View details |
327 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6497 | ::: | View details |
328 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6496 | ::: | View details |
329 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6495 | ::: | View details |
330 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6494 | ::: | View details |
331 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6493 | ::: | View details |
332 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6492 | ::: | View details |
333 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6491 | ::: | View details |
334 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6490 | ::: | View details |
335 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6489 | ::: | View details |
336 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6488 | ::: | View details |
337 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6487 | ::: | View details |
338 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6486 | ::: | View details |
339 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6485 | ::: | View details |
340 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6484 | ::: | View details |
341 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6483 | ::: | View details |
342 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6482 | ::: | View details |
343 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6481 | ::: | View details |
344 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6480 | ::: | View details |
345 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6479 | ::: | View details |
346 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6478 | ::: | View details |
347 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6477 | ::: | View details |
348 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6476 | ::: | View details |
349 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6475 | ::: | View details |
350 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6474 | ::: | View details |
351 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6473 | ::: | View details |
352 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6472 | ::: | View details |
353 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6471 | ::: | View details |
354 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6470 | ::: | View details |
355 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6469 | ::: | View details |
356 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6468 | ::: | View details |
357 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6467 | ::: | View details |
358 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6466 | ::: | View details |
359 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6465 | ::: | View details |
360 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6464 | ::: | View details |
361 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6463 | ::: | View details |
362 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6462 | ::: | View details |
363 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 6461 | ::: | View details |
364 | c.502C>T | p.Arg168* | Female | Rett syndrome-classical | 7033 | 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 |