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