Proband information



Proband id 4150
Systematic Name c.808C>T
Protein name p.Arg270*
Mutation type nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease
Detection PCR/diagnostic restriction
Extent exons 2-4
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Known
Reference Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 8 :Bunyan, D.::
2 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 93 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
3 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 94 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
4 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 95 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
5 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 96 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
6 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 97 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
7 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 98 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
8 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 99 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
9 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 100 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
10 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 116 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
11 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 117 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
12 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 118 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
13 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 130 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
14 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 178 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
15 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 179 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
16 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 180 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
17 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 201 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
18 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 202 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
19 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 246 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
20 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 247 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
21 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 248 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
22 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 279 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
23 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 280 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
24 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 281 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
25 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 310 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
26 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 311 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
27 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 312 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
28 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 313 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
29 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 338 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
30 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 339 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
31 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 340 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
32 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 341 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
33 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 358 :::
34 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 371 :::
35 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 382 :::
36 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 389 :::
37 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 390 :::
38 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 392 :::
39 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 401 :::
40 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 417 :::
41 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 455 :::
42 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 460 :::
43 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 464 :::
44 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 943 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
45 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 941 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
46 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 940 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
47 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 922 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
48 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 920 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
49 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 903 :::
50 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Classical 901 :::
51 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Classical 902 :::
52 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1092 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
53 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1093 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
54 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1094 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
55 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1095 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
56 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1096 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
57 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1097 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
58 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1098 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
59 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1099 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
60 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Rett synd. 1149 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
61 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1156 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
62 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1157 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
63 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1158 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
64 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1159 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
65 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1216 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
66 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1253 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485
67 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1332 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
68 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1333 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
69 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1334 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
70 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1335 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
71 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1336 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
72 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1337 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
73 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1338 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
74 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1339 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
75 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 1340 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
76 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1410 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
77 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1411 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
78 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1412 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
79 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1413 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
80 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1414 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
81 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1415 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
82 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1416 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
83 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1417 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
84 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Male Rett syndrome-Male variant 1435 Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy:Topcu, M., Akyerli, C., Sayi, A., Törüner, G.A., Koçoglu, S.R., Cimbis, M., Ozçelik, T.:European Journal of Human Genetics: 11896459
85 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1474 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
86 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1475 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
87 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1476 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
88 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1515 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
89 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1516 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
90 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1517 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
91 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Unknown Rett syndrome-classical 1518 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741
92 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1595 :Bunyan, D.::
93 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1619 :Bunyan, D.::
94 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1626 :Bunyan, D.::
95 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1643 :Bunyan, D.::
96 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1681 :Friez, Michael::
97 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1684 :Friez, Michael::
98 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1688 :Friez, Michael::
99 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1703 :Friez, Michael::
100 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1709 :Friez, Michael::
101 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1738 :Friez, Michael::
102 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1772 :Friez, Michael::
103 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1775 :Friez, Michael::
104 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1781 :Friez, Michael::
105 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1782 :Friez, Michael::
106 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 1783 :Friez, Michael::
107 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1828 :Bunyan, D.::
108 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1831 :Bunyan, D.::
109 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1849 :Bunyan, D.::
110 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1860 :Bunyan, D.::
111 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1868 :Bunyan, D.::
112 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1898 :::
113 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 1957 :Schanen, C.:: 15057977
114 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1968 Fetal alcohol syndrome in association with Rett syndrome:B. Zoll, P. Huppke, A. Wessel, I. Bartels and F. Laccone:Genetic Counseling: 15287421
115 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Not Known 2012 :::
116 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2289 :Cardiff, UK::
117 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2290 :Cardiff, UK::
118 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2291 :Cardiff, UK::
119 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2292 :Cardiff, UK::
120 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2293 :Cardiff, UK::
121 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 2294 :Cardiff, UK::
122 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2295 :Cardiff, UK::
123 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2296 :Cardiff, UK::
124 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2297 :Cardiff, UK::
125 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2298 :Cardiff, UK::
126 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 2299 :Cardiff, UK::
127 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2300 :Cardiff, UK::
128 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2301 :Cardiff, UK::
129 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2302 :Cardiff, UK::
130 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2303 :Cardiff, UK::
131 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2304 :Cardiff, UK::
132 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2305 :Cardiff, UK::
133 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 2306 :Cardiff, UK::
134 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2307 :Cardiff, UK::
135 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2410 :::
136 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2414 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
137 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2435 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
138 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2439 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
139 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Congenital onset 2443 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
140 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2451 :::
141 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2452 :::
142 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2456 :::
143 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2471 :::
144 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2479 :::
145 c.808C>T p.Arg270* Nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2481 :::
146 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 2543 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
147 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2606 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
148 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2607 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
149 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2608 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
150 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2824 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
151 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2826 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
152 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2827 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
153 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2900 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
154 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2941 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
155 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2942 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
156 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2943 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
157 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-atypical 2969 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
158 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2983 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
159 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3043 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
160 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3055 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
161 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3056 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
162 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3057 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
163 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3058 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
164 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3217 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
165 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3218 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
166 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3219 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
167 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3220 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
168 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3221 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
169 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3222 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
170 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3223 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
171 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3224 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
172 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3225 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
173 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3226 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
174 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3227 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
175 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3228 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
176 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3229 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
177 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3230 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
178 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3231 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
179 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3232 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
180 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3233 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
181 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3234 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
182 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3360 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
183 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3400 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
184 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3401 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
185 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3402 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
186 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3492 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
187 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3493 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
188 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3494 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
189 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3495 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
190 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3496 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
191 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3497 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
192 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3498 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
193 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3499 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
194 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3500 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
195 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3501 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
196 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3502 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
197 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3503 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
198 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3584 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
199 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3585 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
200 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3586 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
201 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3587 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
202 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3588 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
203 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3589 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
204 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3590 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
205 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3717 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
206 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3718 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
207 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3719 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
208 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3720 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
209 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3721 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
210 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3722 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
211 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3723 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
212 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3724 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
213 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3725 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
214 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3726 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
215 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3727 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
216 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3728 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
217 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3729 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
218 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3730 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
219 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3731 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
220 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3795 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
221 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4068 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
222 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4069 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
223 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4149 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
224 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4150 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
225 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4151 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
226 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4266 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
227 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4267 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
228 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4268 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
229 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4269 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
230 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4270 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
231 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4271 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
232 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Atypical 4272 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
233 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4311 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
234 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4320 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677
235 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4382 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
236 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 4383 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
237 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4491 :Das, S., Dempsey, M. U. Chicago::
238 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4492 :Das, S., Dempsey, M. U. Chicago::
239 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4493 :Das, S., Dempsey, M. U. Chicago::
240 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4494 :Das, S., Dempsey, M. U. Chicago::
241 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4495 :Das, S., Dempsey, M. U. Chicago::
242 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Not Known 4496 :Das, S., Dempsey, M. U. Chicago::
243 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4721 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
244 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4722 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
245 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4723 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
246 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4814 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
247 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4877 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
248 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4927 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
249 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4928 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
250 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4929 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis:Todorov, T., Todorova, A., motoescu, C., Dimova, P., Iancu, D., Craiu, D., Stoian, D., Barbarii, L., Bojinova, V., Mitev, V.:Mutation Research: 22525432
251 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5058 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
252 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 5128 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
253 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 5129 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
254 c.808C>T p.Arg270* nonsense NLS Mutation associated with disease Female Rett syndrome-classical 6746 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
255 c.808C>T p.Arg270* nonsense NLS Mutation associated with disease Female Not Known 6745 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
256 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6450 :::
257 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6449 :::
258 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6448 :::
259 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6447 :::
260 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6446 :::
261 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6445 :::
262 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6444 :::
263 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6443 :::
264 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6441 :::
265 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6442 :::
266 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6440 :::
267 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6439 :::
268 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6438 :::
269 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6437 :::
270 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6436 :::
271 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6435 :::
272 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6434 :::
273 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6432 :::
274 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6433 :::
275 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6431 :::
276 c.808C>T p.Arg270* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6430 :::