Proband information



Proband id 2868
Systematic Name c.397C>T
Protein name p.Arg133Cys
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent exons 3 and 4
Source of DNA not known
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-forme fruste
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 7 :Bunyan, D.::
2 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 16 :Bunyan, D.::
3 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 56 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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 57 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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 105 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krńmer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
6 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 156 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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 157 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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 158 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.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 263 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
10 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 264 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
11 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 288 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
12 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 292 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., Jńrvelń, I.:Neurology: 11245712
13 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 293 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., Jńrvelń, I.:Neurology: 11245712
14 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 294 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., Jńrvelń, I.:Neurology: 11245712
15 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 355 :::
16 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 377 :::
17 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 380 :::
18 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 383 :::
19 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 400 :::
20 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 411 :::
21 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 418 :::
22 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 451 :::
23 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Forme fruste 880 :::
24 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Preserved speech 881 :::
25 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 866 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
26 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Classical 839 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514
27 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1030 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
28 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1175 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
29 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 1176 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022
30 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1219 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
31 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1224 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlstr÷m, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
32 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1280 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
33 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1281 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
34 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1282 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
35 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1283 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
36 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1284 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
37 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1285 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
38 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1395 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
39 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1438 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
40 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1439 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
41 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1440 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512
42 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1504 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
43 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Unknown Rett syndrome-atypical 1505 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
44 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1610 :Bunyan, D.::
45 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1624 :Bunyan, D.::
46 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1628 :Bunyan, D.::
47 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1644 :Bunyan, D.::
48 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1675 :Friez, Michael::
49 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1704 :Friez, Michael::
50 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1708 :Friez, Michael::
51 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1712 :Friez, Michael::
52 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1719 :Friez, Michael::
53 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1725 :Friez, Michael::
54 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1743 :Friez, Michael::
55 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1767 :Friez, Michael::
56 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1770 :Friez, Michael::
57 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1806 :Friez, Michael::
58 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1813 :Friez, Michael::
59 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 1816 :Friez, Michael::
60 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1869 :Bunyan, D.::
61 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-classical 1961 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
62 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Male Rett syndrome-Classical 1997 Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633
63 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 1998 Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633
64 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 1999 Classic Rett syndrome in a boy with R133C mutation of MECP2:Tatsuo Masuyama, Muneaki Matsuo, Jin J. Jing, Yasuharu Tabara, Kyoko Kitsuki, Hidehisa Yamagata, Yuka Kan, Tetsuro Miki, Kiyohisa Ishii, Ikuko Kondo:Brain and Development: 16122633
65 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2013 :::
66 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2028 :::
67 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Known 2038 :::
68 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2208 :Cardiff, UK::
69 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2209 :Cardiff, UK::
70 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2210 :Cardiff, UK::
71 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2211 :Cardiff, UK::
72 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2212 :Cardiff, UK::
73 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2213 :Cardiff, UK::
74 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 2214 :Cardiff, UK::
75 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2215 :Cardiff, UK::
76 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2216 :Cardiff, UK::
77 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2217 :Cardiff, UK::
78 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2218 :Cardiff, UK::
79 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2219 :Cardiff, UK::
80 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Male Rett syndrome-Atypical 2220 :Cardiff, UK::
81 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2221 :Cardiff, UK::
82 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2222 :Cardiff, UK::
83 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2223 :Cardiff, UK::
84 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2224 :Cardiff, UK::
85 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2389 Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946
86 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2399 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
87 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2411 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
88 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2430 :::
89 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Preserved speech 2447 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canˇs, I., Pineda, M.:Brain and Development: 11738885
90 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2475 :::
91 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2482 :::
92 c.397C>T p.Arg133Cys Missense MBD Mutation associated with disease Female Not Rett synd. 2491 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
93 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 2539 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
94 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2571 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
95 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2572 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
96 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2573 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
97 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2574 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
98 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2575 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
99 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 2576 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
100 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2805 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
101 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2806 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
102 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2856 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., Nistic˛, R., Mangone, L.:American Journal of Medical Genetics: 12567420
103 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2868 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
104 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2869 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
105 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 2870 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
106 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2892 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
107 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2931 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
108 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2932 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
109 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2933 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
110 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 2954 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
111 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 2955 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., VallÚe, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
112 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 2995 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
113 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3097 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
114 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3098 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
115 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3099 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
116 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3100 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
117 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3101 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
118 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3102 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
119 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3103 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
120 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3104 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
121 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3105 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
122 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3106 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
123 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3107 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
124 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3108 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
125 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3109 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
126 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3110 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
127 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-forme fruste 3366 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
128 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3385 A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2:Nielsen JB, Ravn K, Schwartz M:Brain & Development: 11738879
129 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3393 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
130 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3394 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
131 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3427 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
132 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3428 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
133 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3429 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
134 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3430 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
135 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3529 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
136 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3530 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
137 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3531 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
138 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3532 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
139 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3533 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
140 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3534 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
141 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3535 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
142 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3634 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
143 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3635 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
144 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3636 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
145 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 3637 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
146 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3638 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
147 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3639 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
148 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3640 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
149 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3641 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
150 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3642 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
151 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3643 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
152 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 3644 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
153 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 3790 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
154 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4062 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
155 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4117 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
156 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4118 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
157 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4119 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
158 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4120 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
159 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4121 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
160 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4248 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
161 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4314 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
162 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4359 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
163 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Atypical 4360 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
164 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-Classical 4361 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
165 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4429 :Das, S., Dempsey, M. U. Chicago::
166 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4430 :Das, S., Dempsey, M. U. Chicago::
167 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4431 :Das, S., Dempsey, M. U. Chicago::
168 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4432 :Das, S., Dempsey, M. U. Chicago::
169 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4433 :Das, S., Dempsey, M. U. Chicago::
170 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4434 :Das, S., Dempsey, M. U. Chicago::
171 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4435 :Das, S., Dempsey, M. U. Chicago::
172 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 4436 :Das, S., Dempsey, M. U. Chicago::
173 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4732 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
174 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4733 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
175 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4734 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
176 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4735 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
177 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-atypical 4809 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
178 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4832 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
179 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4833 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
180 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4834 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
181 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 4835 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
182 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 4865 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
183 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 4917 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
184 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 5045 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
185 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-not certain 5046 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
186 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 5123 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
187 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Known 6729 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
188 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-preserved speech 6727 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
189 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6728 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
190 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Not Rett synd. 6601 :::
191 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Male Not Rett synd. 6600 :::
192 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6563 :::
193 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6562 :::
194 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6561 :::
195 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6560 :::
196 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6559 :::
197 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6558 :::
198 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6557 :::
199 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6556 :::
200 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6555 :::
201 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6554 :::
202 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6553 :::
203 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6552 :::
204 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6551 :::
205 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6550 :::
206 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6549 :::
207 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6548 :::
208 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6547 :::
209 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6546 :::
210 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6545 :::
211 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6544 :::
212 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6543 :::
213 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6542 :::
214 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6541 :::
215 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6540 :::
216 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6539 :::
217 c.397C>T p.Arg133Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6538 :::