Proband information



Proband id 3505
Systematic Name c.880C>T
Protein name p.Arg294*
Mutation type nonsense
Domain TRD
Pathogenicity Mutation associated with disease
Detection SSCP, direct
Extent exons 2-4
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 101 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
2 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 102 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 119 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
4 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 148 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
5 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 181 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
6 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 182 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
7 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 183 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
8 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 184 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
9 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 203 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
10 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 204 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
11 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 249 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
12 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 250 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
13 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 251 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
14 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 252 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
15 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 282 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
16 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 283 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
17 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 314 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
18 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 315 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
19 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 316 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
20 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 317 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
21 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 343 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
22 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 344 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
23 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 345 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
24 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 346 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
25 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 378 :::
26 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 387 :::
27 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 388 :::
28 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 393 :::
29 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 403 :::
30 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 410 :::
31 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 420 :::
32 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 478 :::
33 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 947 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
34 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 945 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
35 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 926 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
36 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Forme fruste 909 :::
37 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 907 :::
38 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 908 :::
39 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 905 :::
40 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 906 :::
41 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 904 :::
42 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 874 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
43 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 873 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
44 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 872 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
45 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1100 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
46 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1101 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
47 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1102 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
48 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1103 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
49 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1104 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
50 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1105 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
51 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1106 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
52 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1166 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
53 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1167 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
54 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1168 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
55 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1211 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
56 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1229 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
57 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1230 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
58 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1260 The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865
59 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1261 The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865
60 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1341 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
61 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1342 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
62 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1343 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
63 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1344 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
64 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1345 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
65 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1346 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
66 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1347 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
67 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1348 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1349 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1350 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1351 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1352 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1353 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1354 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1378 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
75 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1418 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
76 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1419 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1420 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.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 1453 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
79 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1519 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
80 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1689 :Friez, Michael::
81 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1690 :Friez, Michael::
82 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1694 :Friez, Michael::
83 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1701 :Friez, Michael::
84 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1718 :Friez, Michael::
85 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1728 :Friez, Michael::
86 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1731 :Friez, Michael::
87 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1760 :Friez, Michael::
88 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1784 :Friez, Michael::
89 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1785 :Friez, Michael::
90 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 1791 :Friez, Michael::
91 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1840 :Bunyan, D.::
92 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1901 :::
93 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 1902 :::
94 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 1928 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
95 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1934 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
96 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1953 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
97 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1956 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
98 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-classical 1958 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
99 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 2048 :::
100 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 2052 :::
101 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Not Known 2064 :::
102 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2308 :Cardiff, UK::
103 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 2309 :Cardiff, UK::
104 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2310 :Cardiff, UK::
105 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2311 :Cardiff, UK::
106 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2312 :Cardiff, UK::
107 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 2313 :Cardiff, UK::
108 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2314 :Cardiff, UK::
109 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Not certain 2315 :Cardiff, UK::
110 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2316 :Cardiff, UK::
111 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2317 :Cardiff, UK::
112 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2318 :Cardiff, UK::
113 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2319 :Cardiff, UK::
114 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2397 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
115 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2403 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
116 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2445 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
117 c.880C>T p.Arg294* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2449 :::
118 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Male Rett syndrome-male variant 2550 Male Rett phenotypes in T158M and R294X MeCP2-mutations:Lundvall, M., Samuelsson, L., Kyllerman, M.:Neuropediatrics: 17236109
119 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2611 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
120 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2612 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
121 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2613 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
122 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2614 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
123 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-preserved speech 2647 Rett Syndrome: Clinical and molecular characterization of two Brazilian patients:Stachon, A., Assumpção, F.B., Raskin, S.:Arq Neuropsiquiatr: 17420824
124 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2828 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
125 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2859 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
126 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2864 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420
127 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2880 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
128 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2881 Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523
129 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2901 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
130 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Rett synd. 2911 Identification of MeCP2 mutations in a series of females with autistic disorder:Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M., Pericak-Vance, M.A.:Pediatr Neurol: 12770674
131 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2944 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
132 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 2970 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
133 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2984 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
134 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 2985 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
135 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3006 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
136 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3016 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
137 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3017 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
138 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3044 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
139 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3045 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
140 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3059 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
141 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3060 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
142 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3235 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
143 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3236 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
144 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3237 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
145 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3238 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
146 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3239 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
147 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3240 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
148 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3241 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
149 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3242 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
150 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3243 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
151 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3244 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
152 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3245 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
153 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3246 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
154 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3247 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
155 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3248 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
156 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3249 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
157 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3250 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
158 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3251 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
159 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3252 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
160 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3363 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
161 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3364 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
162 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3365 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
163 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3403 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
164 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3404 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
165 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-preserved speech 3405 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
166 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3504 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
167 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3505 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
168 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3506 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
169 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3591 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
170 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3592 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
171 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 3593 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
172 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3732 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
173 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3733 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
174 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3734 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
175 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3735 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
176 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3736 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
177 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3737 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
178 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 3738 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
179 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3739 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
180 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3740 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
181 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3741 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
182 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-atypical 3742 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
183 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4090 Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931
184 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4091 Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931
185 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4129 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
186 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4130 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
187 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4131 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
188 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4132 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
189 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4133 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
190 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4134 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
191 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4293 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
192 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4294 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
193 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 4295 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
194 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4296 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
195 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4297 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
196 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4298 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
197 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4309 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
198 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4384 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
199 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-Atypical 4385 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
200 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4499 :Das, S., Dempsey, M. U. Chicago::
201 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4500 :Das, S., Dempsey, M. U. Chicago::
202 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4501 :Das, S., Dempsey, M. U. Chicago::
203 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4502 :Das, S., Dempsey, M. U. Chicago::
204 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4503 :Das, S., Dempsey, M. U. Chicago::
205 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4504 :Das, S., Dempsey, M. U. Chicago::
206 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 4505 :Das, S., Dempsey, M. U. Chicago::
207 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4724 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
208 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4725 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
209 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4726 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
210 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4727 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
211 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4847 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
212 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4913 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
213 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-not certain 4921 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
214 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 4930 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
215 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 5130 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
216 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Rett synd. 5131 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
217 c.880C>T p.Arg294* Missense TRD Mutation associated with disease Female Not Known 6761 "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
218 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6429 :::
219 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6428 :::
220 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Rett synd. 6427 :::
221 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6426 :::
222 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6425 :::
223 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6424 :::
224 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6423 :::
225 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6422 :::
226 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6421 :::
227 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6420 :::
228 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-forme fruste 6419 :::
229 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6418 :::
230 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6417 :::
231 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6416 :::
232 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6415 :::
233 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6414 :::
234 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6413 :::
235 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6412 :::
236 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6411 :::
237 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Not Known 6410 :::
238 c.880C>T p.Arg294* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6409 :::