Proband information
Proband id | 100 |
---|---|
Systematic Name (NM_004992.3:) |
c.808C>T |
Protein name (NP_004983) |
p.Arg270* |
Alternate systematic Name (NM_001110792.1:) |
c.844C>T |
Alternate Protein name (NP_001104262) |
p.(Arg282*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296471G>A |
Mutation type | Nonsense |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 8 | :Bunyan, D.:: | |
2 | c.808C>T | p.Arg270* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | Variation not found in parents | 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* | 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* | Female | Variation not found in parents | 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* | Female | Variation not found in parents | 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* | Female | Variation not found in parents | 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* | Female | No unaffected relatives found to have disease-causing mutations | 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* | Female | No unaffected relatives found to have disease-causing mutations | 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* | 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* | 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* | 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* | Female | Neither parent is carrier | 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* | Female | Neither parent is carrier | 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* | Female | Neither parent is carrier | 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* | 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* | 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* | 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* | 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* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Female | Brain sample | Rett syndrome-Not certain | 358 | ::: |
34 | c.808C>T | p.Arg270* | Female | Father is not carrier | Rett syndrome-Classical | 371 | ::: |
35 | c.808C>T | p.Arg270* | Female | Rett syndrome-Atypical | 382 | ::: | |
36 | c.808C>T | p.Arg270* | Female | Not Known | 389 | ::: | |
37 | c.808C>T | p.Arg270* | Female | Father is not carrier, Mother is not carrier | Rett syndrome-Classical | 390 | ::: |
38 | c.808C>T | p.Arg270* | Female | Mother is not carrier | Rett syndrome-Classical | 392 | ::: |
39 | c.808C>T | p.Arg270* | Female | Mother is not carrier | Rett syndrome-Atypical | 401 | ::: |
40 | c.808C>T | p.Arg270* | Female | Not Known | 417 | ::: | |
41 | c.808C>T | p.Arg270* | Female | Brother is not carrier, Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 455 | ::: |
42 | c.808C>T | p.Arg270* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 460 | ::: |
43 | c.808C>T | p.Arg270* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 464 | ::: |
44 | c.808C>T | p.Arg270* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Female | Neither parent has variation | 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* | Unknown | Rett syndrome-Not certain | 903 | ::: | |
50 | c.808C>T | p.Arg270* | Unknown | Rett syndrome-Classical | 901 | ::: | |
51 | c.808C>T | p.Arg270* | Unknown | Rett syndrome-Classical | 902 | ::: | |
52 | c.808C>T | p.Arg270* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | Unknown | Mutation not carried by parents | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | Neither parent has variation | Rett syndrome-Not certain | 1595 | :Bunyan, D.:: |
93 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1619 | :Bunyan, D.:: | |
94 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1626 | :Bunyan, D.:: | |
95 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1643 | :Bunyan, D.:: | |
96 | c.808C>T | p.Arg270* | Female | Not Known | 1681 | :Friez, Michael:: | |
97 | c.808C>T | p.Arg270* | Female | Not Known | 1684 | :Friez, Michael:: | |
98 | c.808C>T | p.Arg270* | Female | Not Known | 1688 | :Friez, Michael:: | |
99 | c.808C>T | p.Arg270* | Female | Not Known | 1703 | :Friez, Michael:: | |
100 | c.808C>T | p.Arg270* | Female | Not Known | 1709 | :Friez, Michael:: | |
101 | c.808C>T | p.Arg270* | Female | Not Known | 1738 | :Friez, Michael:: | |
102 | c.808C>T | p.Arg270* | Female | Not Known | 1772 | :Friez, Michael:: | |
103 | c.808C>T | p.Arg270* | Female | Not Known | 1775 | :Friez, Michael:: | |
104 | c.808C>T | p.Arg270* | Female | Not Known | 1781 | :Friez, Michael:: | |
105 | c.808C>T | p.Arg270* | Female | Not Known | 1782 | :Friez, Michael:: | |
106 | c.808C>T | p.Arg270* | Female | Not Known | 1783 | :Friez, Michael:: | |
107 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1828 | :Bunyan, D.:: | |
108 | c.808C>T | p.Arg270* | Female | Neither parent has variation | Rett syndrome-Not certain | 1831 | :Bunyan, D.:: |
109 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1849 | :Bunyan, D.:: | |
110 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1860 | :Bunyan, D.:: | |
111 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1868 | :Bunyan, D.:: | |
112 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 1898 | ::: | |
113 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 1957 | :Schanen, C.:: 15057977 | |
114 | c.808C>T | p.Arg270* | 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* | Female | Not Known | 2012 | ::: | |
116 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2289 | :Cardiff, UK:: | |
117 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2290 | :Cardiff, UK:: | |
118 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2291 | :Cardiff, UK:: | |
119 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2292 | :Cardiff, UK:: | |
120 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 2293 | :Cardiff, UK:: | |
121 | c.808C>T | p.Arg270* | Female | Rett syndrome-Atypical | 2294 | :Cardiff, UK:: | |
122 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2295 | :Cardiff, UK:: | |
123 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2296 | :Cardiff, UK:: | |
124 | c.808C>T | p.Arg270* | Female | Rett syndrome-Not certain | 2297 | :Cardiff, UK:: | |
125 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2298 | :Cardiff, UK:: | |
126 | c.808C>T | p.Arg270* | Female | Rett syndrome-Atypical | 2299 | :Cardiff, UK:: | |
127 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2300 | :Cardiff, UK:: | |
128 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2301 | :Cardiff, UK:: | |
129 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2302 | :Cardiff, UK:: | |
130 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2303 | :Cardiff, UK:: | |
131 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2304 | :Cardiff, UK:: | |
132 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2305 | :Cardiff, UK:: | |
133 | c.808C>T | p.Arg270* | Female | Rett syndrome-Atypical | 2306 | :Cardiff, UK:: | |
134 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2307 | :Cardiff, UK:: | |
135 | c.808C>T | p.Arg270* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2410 | ::: |
136 | c.808C>T | p.Arg270* | Female | Researcher claims neither parent has variation | 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* | Female | Researcher claims neither parent has variation | 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* | Female | Researcher claims neither parent has variation | 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* | Female | Researcher claims neither parent has variation | 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* | Female | Affected twin sister has variation, researcher claims neither parent has variation | Rett syndrome-Classical | 2451 | ::: |
141 | c.808C>T | p.Arg270* | Female | Affected twin sister has variation, researcher claims neither parent has variation | Rett syndrome-Classical | 2452 | ::: |
142 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2456 | ::: | |
143 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2471 | ::: | |
144 | c.808C>T | p.Arg270* | Female | Rett syndrome-Classical | 2479 | ::: | |
145 | c.808C>T | p.Arg270* | Female | Researcher claims neither parent has variation | Rett syndrome-Classical | 2481 | ::: |
146 | c.808C>T | p.Arg270* | 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* | Female | parents negative | 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* | 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* | 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* | 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* | 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* | 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* | Female | de novo | 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* | 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* | 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* | 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* | 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* | 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* | Female | de novo | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | de novo | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | de novo | 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* | 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* | Female | NK | 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* | Female | NK | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | absent in mother | 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* | Female | absent in mother | 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* | Female | Not Known | 4491 | :Das, S., Dempsey, M. U. Chicago:: | |
238 | c.808C>T | p.Arg270* | Female | Not Known | 4492 | :Das, S., Dempsey, M. U. Chicago:: | |
239 | c.808C>T | p.Arg270* | Female | Not Known | 4493 | :Das, S., Dempsey, M. U. Chicago:: | |
240 | c.808C>T | p.Arg270* | Female | Not Known | 4494 | :Das, S., Dempsey, M. U. Chicago:: | |
241 | c.808C>T | p.Arg270* | Female | Not Known | 4495 | :Das, S., Dempsey, M. U. Chicago:: | |
242 | c.808C>T | p.Arg270* | Female | Not Known | 4496 | :Das, S., Dempsey, M. U. Chicago:: | |
243 | c.808C>T | p.Arg270* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | 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* | Female | de novo | 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* | Female | de novo | 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* | Female | Mother-negative | 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* | Female | Mother-negative | 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* | Female | Rett syndrome-classical | 6450 | ::: | |
257 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6449 | ::: | |
258 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6448 | ::: | |
259 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6447 | ::: | |
260 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6446 | ::: | |
261 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6445 | ::: | |
262 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6444 | ::: | |
263 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6443 | ::: | |
264 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6441 | ::: | |
265 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6442 | ::: | |
266 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6440 | ::: | |
267 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6439 | ::: | |
268 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6438 | ::: | |
269 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6437 | ::: | |
270 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6436 | ::: | |
271 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6435 | ::: | |
272 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6434 | ::: | |
273 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6432 | ::: | |
274 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6433 | ::: | |
275 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6431 | ::: | |
276 | c.808C>T | p.Arg270* | Female | Rett syndrome-classical | 6430 | ::: |