Proband information


Proband id 1493
Systematic Name
(NM_004992.3:)
c.502C>T
Protein name
(NP_004983)
p.Arg168*
Alternate systematic Name
(NM_001110792.1:)
c.538C>T
Alternate Protein name
(NP_001104262)
p.(Arg180*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296777G>A
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Variation found in two affected daughters, variation not found in two unaffected daughters
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-Unaffected family member
Reference Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.502C>T p.Arg168* Female Rett syndrome-Not certain 80 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.502C>T p.Arg168* Female Rett syndrome-Not certain 81 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
3 c.502C>T p.Arg168* Female Rett syndrome-Not certain 82 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
4 c.502C>T p.Arg168* Female Rett syndrome-Not certain 83 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
5 c.502C>T p.Arg168* Female Rett syndrome-Not certain 84 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
6 c.502C>T p.Arg168* Female Rett syndrome-Not certain 85 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
7 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Preserved speech 110 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
8 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Not certain 111 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
9 c.502C>T p.Arg168* Female Rett syndrome-Not certain 112 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
10 c.502C>T p.Arg168* Unknown Neither parent is carrier Rett syndrome-Not certain 142 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
11 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Classical 173 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
12 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Classical 174 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
13 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Classical 175 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
14 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Classical 176 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
15 c.502C>T p.Arg168* Female Variation not found in parents Rett syndrome-Classical 177 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688
16 c.502C>T p.Arg168* Female No unaffected relatives found to have disease-causing mutations Rett syndrome-Not certain 195 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
17 c.502C>T p.Arg168* Female No unaffected relatives found to have disease-causing mutations Rett syndrome-Not certain 196 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
18 c.502C>T p.Arg168* Female No unaffected relatives found to have disease-causing mutations Rett syndrome-Not certain 197 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689
19 c.502C>T p.Arg168* Female Rett syndrome-Classical 213 MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980
20 c.502C>T p.Arg168* Unknown Rett syndrome-Not certain 237 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
21 c.502C>T p.Arg168* Unknown Rett syndrome-Not certain 238 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
22 c.502C>T p.Arg168* Unknown Rett syndrome-Not certain 239 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906
23 c.502C>T p.Arg168* Female Neither parent is carrier Rett syndrome-Not certain 270 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
24 c.502C>T p.Arg168* Female Neither parent is carrier Rett syndrome-Not certain 271 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
25 c.502C>T p.Arg168* Female Neither parent is carrier Rett syndrome-Not certain 272 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
26 c.502C>T p.Arg168* Female Neither parent is carrier Rett syndrome-Not certain 273 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
27 c.502C>T p.Arg168* Female Neither parent is carrier Rett syndrome-Not certain 274 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
28 c.502C>T p.Arg168* Female Neither parent is carrier Rett syndrome-Not certain 275 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
29 c.502C>T p.Arg168* Female Rett syndrome-Classical 300 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
30 c.502C>T p.Arg168* Female Mother does not have variation, father can not be screened Rett syndrome-Classical 332 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
31 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 333 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
32 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 334 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
33 c.502C>T p.Arg168* Female Mother is not carrier Not Known 360 :::
34 c.502C>T p.Arg168* Female Father is not carrier Rett syndrome-Classical 397 :::
35 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 407 :::
36 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 408 :::
37 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Atypical 412 :::
38 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Atypical 416 :::
39 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 425 :::
40 c.502C>T p.Arg168* Female Rett syndrome-Classical 428 :::
41 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 444 :::
42 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Atypical 457 :::
43 c.502C>T p.Arg168* Female Mother is not carrier, Father is not carrier Rett syndrome-Classical 458 :::
44 c.502C>T p.Arg168* Female Mother is not carrier Rett syndrome-Atypical 471 :::
45 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 937 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
46 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 931 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
47 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 925 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
48 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 923 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
49 c.502C>T p.Arg168* Unknown Rett syndrome-Classical 894 :::
50 c.502C>T p.Arg168* Unknown Rett syndrome-Classical 892 :::
51 c.502C>T p.Arg168* Unknown Rett syndrome-Classical 893 :::
52 c.502C>T p.Arg168* Unknown Rett syndrome-Classical 891 :::
53 c.502C>T p.Arg168* Unknown Rett syndrome-Not certain 877 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
54 c.502C>T p.Arg168* Unknown Rett syndrome-Not certain 876 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
55 c.502C>T p.Arg168* Unknown Rett syndrome-Not certain 875 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042
56 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1065 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
57 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1066 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
58 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1067 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
59 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1068 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
60 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1069 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
61 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1070 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
62 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1071 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
63 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1072 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
64 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1073 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
65 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1074 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
66 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1075 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
67 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1076 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
68 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1077 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
69 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1160 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
70 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1161 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
71 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1162 Parental origin of de novo MeCP2 mutations in Rett syndrome:Girard, Muriel, Couvert, Philippe, Carrié, Alain, Tardieu, Marc, Chelly, Jamel, Beldjord, Cherif and Bienvenu, Thierry:European journal of human genetics: 11313764
72 c.502C>T p.Arg168* Female Rett syndrome-Classical 1208 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567
73 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 1227 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
74 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Classical 1228 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283
75 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1307 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
76 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1308 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
77 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1309 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
78 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1310 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
79 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1311 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
80 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1312 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
81 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1313 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
82 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1314 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
83 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1315 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
84 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1316 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
85 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1317 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
86 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1318 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
87 c.502C>T p.Arg168* Unknown Mutation not carried by parents Rett syndrome-Not certain 1319 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840
88 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Not certain 1377 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359
89 c.502C>T p.Arg168* Female Rett syndrome-Classical 1405 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
90 c.502C>T p.Arg168* Female Rett syndrome-Classical 1406 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
91 c.502C>T p.Arg168* Female Rett syndrome-Classical 1407 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
92 c.502C>T p.Arg168* Female Rett syndrome-Classical 1445 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
93 c.502C>T p.Arg168* Female Rett syndrome-Classical 1446 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
94 c.502C>T p.Arg168* Female Rett syndrome-Classical 1447 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
95 c.502C>T p.Arg168* Female Rett syndrome-Classical 1448 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
96 c.502C>T p.Arg168* Female Rett syndrome-Classical 1467 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
97 c.502C>T p.Arg168* Unknown Variation not found in mother Rett syndrome-Classical 1485 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
98 c.502C>T p.Arg168* Unknown Variation not found in mother Rett syndrome-Classical 1486 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
99 c.502C>T p.Arg168* Unknown Variation not found in mother Rett syndrome-Classical 1487 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
100 c.502C>T p.Arg168* Unknown Variation not found in mother Rett syndrome-Classical 1488 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
101 c.502C>T p.Arg168* Unknown Variation not found in mother Rett syndrome-Classical 1489 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
102 c.502C>T p.Arg168* Unknown Variation not found in mother Rett syndrome-Classical 1490 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
103 c.502C>T p.Arg168* Female Variation found in unaffected mother, variation found in affected sister, variation not found in unaffected sisters Rett syndrome-Not certain 1491 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
104 c.502C>T p.Arg168* Female Variation found in unaffected mother, variation found in affected sister, variation not found in unaffected sisters Rett syndrome-Not certain 1492 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
105 c.502C>T p.Arg168* Female Variation found in two affected daughters, variation not found in two unaffected daughters Not Rett synd. 1493 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
106 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1601 :Bunyan, D.::
107 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Not certain 1604 :Bunyan, D.::
108 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1642 :Bunyan, D.::
109 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1656 :::
110 c.502C>T p.Arg168* Female Not Known 1660 :Friez, Michael::
111 c.502C>T p.Arg168* Female Not Known 1664 :Friez, Michael::
112 c.502C>T p.Arg168* Female Not Known 1667 :Friez, Michael::
113 c.502C>T p.Arg168* Female Not Known 1676 :Friez, Michael::
114 c.502C>T p.Arg168* Female Not Known 1683 :Friez, Michael::
115 c.502C>T p.Arg168* Female Not Known 1691 :Friez, Michael::
116 c.502C>T p.Arg168* Female Not Known 1692 :Friez, Michael::
117 c.502C>T p.Arg168* Female Not Known 1696 :Friez, Michael::
118 c.502C>T p.Arg168* Female Not Known 1697 :Friez, Michael::
119 c.502C>T p.Arg168* Female Not Known 1710 :Friez, Michael::
120 c.502C>T p.Arg168* Female Not Known 1714 :Friez, Michael::
121 c.502C>T p.Arg168* Female Not Known 1720 :Friez, Michael::
122 c.502C>T p.Arg168* Female Not Known 1761 :Friez, Michael::
123 c.502C>T p.Arg168* Female Not Known 1796 :Friez, Michael::
124 c.502C>T p.Arg168* Female Not Known 1800 :Friez, Michael::
125 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Not certain 1821 :Bunyan, D.::
126 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-Not certain 1861 :Bunyan, D.::
127 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1889 :::
128 c.502C>T p.Arg168* Female Rett syndrome-Not certain 1890 :::
129 c.502C>T p.Arg168* Female Rett syndrome-classical 1925 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
130 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-classical 1937 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
131 c.502C>T p.Arg168* Female Rett syndrome-atypical 1949 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
132 c.502C>T p.Arg168* Female Rett syndrome-atypical 1954 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
133 c.502C>T p.Arg168* Female Neither parent has variation Rett syndrome-classical 1955 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
134 c.502C>T p.Arg168* Female Rett syndrome-atypical 1960 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
135 c.502C>T p.Arg168* Female Not Known 2017 :::
136 c.502C>T p.Arg168* Female Not Known 2022 :::
137 c.502C>T p.Arg168* Female Mother does not have variation, unborn sibling twins do not have variation Not Known 2036 :::
138 c.502C>T p.Arg168* Female Rett syndrome-Classical 2227 :Cardiff, UK::
139 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2228 :Cardiff, UK::
140 c.502C>T p.Arg168* Female Rett syndrome-Classical 2229 :Cardiff, UK::
141 c.502C>T p.Arg168* Female Rett syndrome-Not certain 2230 :Cardiff, UK::
142 c.502C>T p.Arg168* Female Atypical Rett syndrome mother has variation, maternal grandparents do not have variation Rett syndrome-Classical 2231 :Cardiff, UK::
143 c.502C>T p.Arg168* Female Rett syndrome-Not certain 2232 :Cardiff, UK::
144 c.502C>T p.Arg168* Female Classic Rett syndrome daughter has variation, parents do not have variation Rett syndrome-Atypical 2233 :Cardiff, UK::
145 c.502C>T p.Arg168* Female Rett syndrome-Classical 2234 :Cardiff, UK::
146 c.502C>T p.Arg168* Female Rett syndrome-Classical 2235 :Cardiff, UK::
147 c.502C>T p.Arg168* Female Rett syndrome-Classical 2236 :Cardiff, UK::
148 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2237 :Cardiff, UK::
149 c.502C>T p.Arg168* Female Rett syndrome-Classical 2238 :Cardiff, UK::
150 c.502C>T p.Arg168* Female Rett syndrome-Classical 2239 :Cardiff, UK::
151 c.502C>T p.Arg168* Female Rett syndrome-Classical 2240 :Cardiff, UK::
152 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2241 :Cardiff, UK::
153 c.502C>T p.Arg168* Female Rett syndrome-Classical 2242 :Cardiff, UK::
154 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2243 :Cardiff, UK::
155 c.502C>T p.Arg168* Female Rett syndrome-Classical 2244 :Cardiff, UK::
156 c.502C>T p.Arg168* Female Rett syndrome-Classical 2245 :Cardiff, UK::
157 c.502C>T p.Arg168* Female Rett syndrome-Classical 2247 :Cardiff, UK::
158 c.502C>T p.Arg168* Female Rett syndrome-Classical 2248 :Cardiff, UK::
159 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2249 :Cardiff, UK::
160 c.502C>T p.Arg168* Female Rett syndrome-Classical 2250 :Cardiff, UK::
161 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2251 :Cardiff, UK::
162 c.502C>T p.Arg168* Female Rett syndrome-Classical 2252 :Cardiff, UK::
163 c.502C>T p.Arg168* Female Rett syndrome-Classical 2253 :Cardiff, UK::
164 c.502C>T p.Arg168* Female Rett syndrome-Classical 2254 :Cardiff, UK::
165 c.502C>T p.Arg168* Female Rett syndrome-Atypical 2255 :Cardiff, UK::
166 c.502C>T p.Arg168* Female Rett syndrome-Classical 2256 :Cardiff, UK::
167 c.502C>T p.Arg168* Female Rett syndrome-Classical 2257 :Cardiff, UK::
168 c.502C>T p.Arg168* Female Rett syndrome-Classical 2258 :Cardiff, UK::
169 c.502C>T p.Arg168* Female Rett syndrome-Classical 2259 :Cardiff, UK::
170 c.502C>T p.Arg168* Female Rett syndrome-Classical 2260 :Cardiff, UK::
171 c.502C>T p.Arg168* Female Rett syndrome-Classical 2261 :Cardiff, UK::
172 c.502C>T p.Arg168* Female Rett syndrome-Classical 2262 :Cardiff, UK::
173 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Preserved speech 2404 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
174 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Congenital onset 2406 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
175 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Classical 2420 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
176 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Preserved speech 2422 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885
177 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Classical 2427 :::
178 c.502C>T p.Arg168* Female Rett syndrome-Classical 2441 :::
179 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Classical 2454 :::
180 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Congenital onset 2458 :::
181 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Classical 2462 :::
182 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Classical 2463 :::
183 c.502C>T p.Arg168* Female Rett syndrome-Classical 2469 :::
184 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Preserved speech 2474 :::
185 c.502C>T p.Arg168* Female Researcher claims neither parent has variation Rett syndrome-Congenital onset 2485 :::
186 c.502C>T p.Arg168* Female Rett syndrome-not certain 2541 The MECP2 gene mutation screening in Rett Syndrome patients from Croatia:Matijevic, T., Knezeviv, J., Barisic, I., Resic, B., Culic, V., Pavelic, J.:Annals New York Academy of Sciences: 17341617
187 c.502C>T p.Arg168* Female parents negative Rett syndrome-Classical 2593 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
188 c.502C>T p.Arg168* Female parents negative Rett syndrome-Classical 2594 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
189 c.502C>T p.Arg168* Female parents negative Rett syndrome-Classical 2595 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
190 c.502C>T p.Arg168* Female Rett syndrome-classical 2819 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
191 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 2895 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
192 c.502C>T p.Arg168* Female Rett syndrome-classical 2938 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
193 c.502C>T p.Arg168* Female Rett syndrome-classical 2939 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
194 c.502C>T p.Arg168* Female Rett syndrome-atypical 2964 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251
195 c.502C>T p.Arg168* Female Rett syndrome-classical 2978 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954
196 c.502C>T p.Arg168* Female Rett syndrome-classical 2979 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954
197 c.502C>T p.Arg168* Female Rett syndrome-classical 2980 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954
198 c.502C>T p.Arg168* Female Rett syndrome-classical 3003 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
199 c.502C>T p.Arg168* Female Rett syndrome-classical 3004 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
200 c.502C>T p.Arg168* Female Rett syndrome-classical 3013 MECP2 mutations in Swedish Rett syndrome clusters:Xiang, F., Stenbom, Y., Anvret, M.:Clinical Genetics: 12081725
201 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3040 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033
202 c.502C>T p.Arg168* Female Rett syndrome-not certain 3051 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
203 c.502C>T p.Arg168* Female Rett syndrome-not certain 3052 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
204 c.502C>T p.Arg168* Female Rett syndrome-not certain 3053 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
205 c.502C>T p.Arg168* Female Rett syndrome-not certain 3054 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
206 c.502C>T p.Arg168* Female Rett syndrome-not certain 3171 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
207 c.502C>T p.Arg168* Female Rett syndrome-not certain 3172 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
208 c.502C>T p.Arg168* Female Rett syndrome-not certain 3173 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
209 c.502C>T p.Arg168* Female Rett syndrome-not certain 3174 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
210 c.502C>T p.Arg168* Female Rett syndrome-not certain 3175 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
211 c.502C>T p.Arg168* Female Rett syndrome-not certain 3176 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
212 c.502C>T p.Arg168* Female Rett syndrome-not certain 3177 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
213 c.502C>T p.Arg168* Female Rett syndrome-not certain 3178 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
214 c.502C>T p.Arg168* Female Rett syndrome-not certain 3179 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
215 c.502C>T p.Arg168* Female Rett syndrome-not certain 3180 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
216 c.502C>T p.Arg168* Female Rett syndrome-not certain 3181 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
217 c.502C>T p.Arg168* Female Rett syndrome-not certain 3182 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
218 c.502C>T p.Arg168* Female Rett syndrome-not certain 3183 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
219 c.502C>T p.Arg168* Female Rett syndrome-not certain 3184 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
220 c.502C>T p.Arg168* Female Rett syndrome-not certain 3185 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
221 c.502C>T p.Arg168* Female Rett syndrome-not certain 3186 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
222 c.502C>T p.Arg168* Female Rett syndrome-not certain 3187 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
223 c.502C>T p.Arg168* Female Rett syndrome-not certain 3188 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
224 c.502C>T p.Arg168* Female Rett syndrome-not certain 3189 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
225 c.502C>T p.Arg168* Female Rett syndrome-not certain 3190 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
226 c.502C>T p.Arg168* Female Rett syndrome-not certain 3191 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
227 c.502C>T p.Arg168* Female Rett syndrome-not certain 3192 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
228 c.502C>T p.Arg168* Female Rett syndrome-not certain 3193 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
229 c.502C>T p.Arg168* Female Rett syndrome-not certain 3194 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
230 c.502C>T p.Arg168* Female Rett syndrome-not certain 3195 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
231 c.502C>T p.Arg168* Female Rett syndrome-not certain 3196 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
232 c.502C>T p.Arg168* Female Rett syndrome-not certain 3197 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
233 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3354 Trisomy 21 and Rett syndrome: a double burden:Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J:J Paediatr Child Health: 15228575
234 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3367 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
235 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3368 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
236 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3369 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756
237 c.502C>T p.Arg168* Female Rett syndrome-classical 3406 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
238 c.502C>T p.Arg168* Female Rett syndrome-classical 3407 Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864
239 c.502C>T p.Arg168* Female Rett syndrome-not certain 3463 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
240 c.502C>T p.Arg168* Female Rett syndrome-not certain 3464 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
241 c.502C>T p.Arg168* Female Rett syndrome-not certain 3465 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
242 c.502C>T p.Arg168* Female Rett syndrome-not certain 3466 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
243 c.502C>T p.Arg168* Female Rett syndrome-not certain 3467 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
244 c.502C>T p.Arg168* Female Rett syndrome-not certain 3468 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
245 c.502C>T p.Arg168* Female Rett syndrome-not certain 3469 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
246 c.502C>T p.Arg168* Female Rett syndrome-not certain 3470 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
247 c.502C>T p.Arg168* Female Rett syndrome-not certain 3471 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
248 c.502C>T p.Arg168* Female Rett syndrome-not certain 3472 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
249 c.502C>T p.Arg168* Female Rett syndrome-not certain 3473 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
250 c.502C>T p.Arg168* Female Rett syndrome-not certain 3474 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
251 c.502C>T p.Arg168* Female Rett syndrome-not certain 3475 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
252 c.502C>T p.Arg168* Female Rett syndrome-not certain 3476 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
253 c.502C>T p.Arg168* Female Rett syndrome-not certain 3477 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
254 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3567 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
255 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3568 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
256 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3569 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
257 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3570 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
258 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3571 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
259 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3572 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
260 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3573 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
261 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3574 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
262 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3575 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
263 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3576 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
264 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3577 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
265 c.502C>T p.Arg168* Female de novo Rett syndrome-not certain 3578 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
266 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3688 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
267 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3689 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
268 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3690 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
269 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3691 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
270 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3692 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
271 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3693 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
272 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3694 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
273 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3695 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
274 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3696 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
275 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3697 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
276 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3698 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
277 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3699 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
278 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3700 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
279 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3701 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
280 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3702 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
281 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3703 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
282 c.502C>T p.Arg168* Female de novo Rett syndrome-classical 3704 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
283 c.502C>T p.Arg168* Female Rett syndrome-not certain 3791 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998
284 c.502C>T p.Arg168* Female Rett syndrome-classical 3815 Genetic testing in autism: how much is enough?:Herman, GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL:Genetics in Medicine: 17505203
285 c.502C>T p.Arg168* Female NK Rett syndrome-not certain 4067 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
286 c.502C>T p.Arg168* Female Not Known 4140 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
287 c.502C>T p.Arg168* Female Not Known 4141 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
288 c.502C>T p.Arg168* Female Not Known 4142 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
289 c.502C>T p.Arg168* Female Not Known 4143 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
290 c.502C>T p.Arg168* Female Not Known 4144 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
291 c.502C>T p.Arg168* Female Rett syndrome-Classical 4251 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
292 c.502C>T p.Arg168* Female Rett syndrome-Classical 4252 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
293 c.502C>T p.Arg168* Female Rett syndrome-Classical 4253 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
294 c.502C>T p.Arg168* Female Rett syndrome-Classical 4254 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
295 c.502C>T p.Arg168* Female Rett syndrome-Classical 4255 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
296 c.502C>T p.Arg168* Female Rett syndrome-Classical 4256 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
297 c.502C>T p.Arg168* Female Rett syndrome-Classical 4257 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
298 c.502C>T p.Arg168* Female Rett syndrome-Classical 4258 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
299 c.502C>T p.Arg168* Female Rett syndrome-Classical 4259 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
300 c.502C>T p.Arg168* Female Rett syndrome-Atypical 4260 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
301 c.502C>T p.Arg168* Female Rett syndrome-classical 4305 Mutation analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation:Fendri-Kriaa, N., Mkaouar-Rebai, E., Moalla, D., Belguith, N., Louhichi, N., Zemni, R., Slama, F., Triki, C., Fakhfakh, F., Tunisian Network on Mental Retardation:Journal of Child Neurology: 20631224
302 c.502C>T p.Arg168* Female absent in mother Rett syndrome-Classical 4371 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
303 c.502C>T p.Arg168* Female absent in mother Rett syndrome-Classical 4372 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
304 c.502C>T p.Arg168* Female absent in mother Rett syndrome-Atypical 4373 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356
305 c.502C>T p.Arg168* Female Not Known 4461 :Das, S., Dempsey, M. U. Chicago::
306 c.502C>T p.Arg168* Female Not Known 4462 :Das, S., Dempsey, M. U. Chicago::
307 c.502C>T p.Arg168* Female Not Known 4463 :Das, S., Dempsey, M. U. Chicago::
308 c.502C>T p.Arg168* Female Not Known 4464 :Das, S., Dempsey, M. U. Chicago::
309 c.502C>T p.Arg168* Female Not Known 4465 :Das, S., Dempsey, M. U. Chicago::
310 c.502C>T p.Arg168* Female Rett syndrome-not certain 4715 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
311 c.502C>T p.Arg168* Female Rett syndrome-not certain 4716 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
312 c.502C>T p.Arg168* Female Rett syndrome-classical 4811 Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873
313 c.502C>T p.Arg168* Female Rett syndrome-classical 4842 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
314 c.502C>T p.Arg168* Female Rett syndrome-classical 4843 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
315 c.502C>T p.Arg168* Female Rett syndrome-classical 4870 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
316 c.502C>T p.Arg168* Female Rett syndrome-classical 4871 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
317 c.502C>T p.Arg168* Female Rett syndrome-classical 4872 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
318 c.502C>T p.Arg168* Female Rett syndrome-classical 4873 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191
319 c.502C>T p.Arg168* Female Rett syndrome-not certain 5055 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
320 c.502C>T p.Arg168* Female Rett syndrome-not certain 5056 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
321 c.502C>T p.Arg168* Female Rett syndrome-not certain 5057 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
322 c.502C>T p.Arg168* Female Mother,Father-Negative Not Rett synd. 6737 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
323 c.502C>T p.Arg168* Female Rett syndrome-classical 6501 :::
324 c.502C>T p.Arg168* Female Rett syndrome-classical 6500 :::
325 c.502C>T p.Arg168* Female Rett syndrome-classical 6499 :::
326 c.502C>T p.Arg168* Female Rett syndrome-classical 6498 :::
327 c.502C>T p.Arg168* Female Rett syndrome-classical 6497 :::
328 c.502C>T p.Arg168* Female Rett syndrome-classical 6496 :::
329 c.502C>T p.Arg168* Female Rett syndrome-classical 6495 :::
330 c.502C>T p.Arg168* Female Rett syndrome-classical 6494 :::
331 c.502C>T p.Arg168* Female Rett syndrome-classical 6493 :::
332 c.502C>T p.Arg168* Female Rett syndrome-classical 6492 :::
333 c.502C>T p.Arg168* Female Rett syndrome-classical 6491 :::
334 c.502C>T p.Arg168* Female Rett syndrome-classical 6490 :::
335 c.502C>T p.Arg168* Female Rett syndrome-classical 6489 :::
336 c.502C>T p.Arg168* Female Rett syndrome-classical 6488 :::
337 c.502C>T p.Arg168* Female Rett syndrome-classical 6487 :::
338 c.502C>T p.Arg168* Female Rett syndrome-classical 6486 :::
339 c.502C>T p.Arg168* Female Rett syndrome-classical 6485 :::
340 c.502C>T p.Arg168* Female Rett syndrome-classical 6484 :::
341 c.502C>T p.Arg168* Female Rett syndrome-classical 6483 :::
342 c.502C>T p.Arg168* Female Rett syndrome-classical 6482 :::
343 c.502C>T p.Arg168* Female Rett syndrome-classical 6481 :::
344 c.502C>T p.Arg168* Female Rett syndrome-classical 6480 :::
345 c.502C>T p.Arg168* Female Rett syndrome-classical 6479 :::
346 c.502C>T p.Arg168* Female Rett syndrome-classical 6478 :::
347 c.502C>T p.Arg168* Female Rett syndrome-classical 6477 :::
348 c.502C>T p.Arg168* Female Rett syndrome-classical 6476 :::
349 c.502C>T p.Arg168* Female Rett syndrome-classical 6475 :::
350 c.502C>T p.Arg168* Female Rett syndrome-classical 6474 :::
351 c.502C>T p.Arg168* Female Rett syndrome-classical 6473 :::
352 c.502C>T p.Arg168* Female Rett syndrome-classical 6472 :::
353 c.502C>T p.Arg168* Female Rett syndrome-classical 6471 :::
354 c.502C>T p.Arg168* Female Rett syndrome-classical 6470 :::
355 c.502C>T p.Arg168* Female Rett syndrome-classical 6469 :::
356 c.502C>T p.Arg168* Female Rett syndrome-classical 6468 :::
357 c.502C>T p.Arg168* Female Rett syndrome-classical 6467 :::
358 c.502C>T p.Arg168* Female Rett syndrome-classical 6466 :::
359 c.502C>T p.Arg168* Female Rett syndrome-classical 6465 :::
360 c.502C>T p.Arg168* Female Rett syndrome-classical 6464 :::
361 c.502C>T p.Arg168* Female Rett syndrome-classical 6463 :::
362 c.502C>T p.Arg168* Female Rett syndrome-classical 6462 :::
363 c.502C>T p.Arg168* Female Rett syndrome-classical 6461 :::
364 c.502C>T p.Arg168* Female Rett syndrome-classical 7033 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775