-
1
-
-
0033913202
-
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
-
Amano K, Nomura Y, Segawa M, Yamakawa K. 2000. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J Hum Genet 45:231-236.
-
(2000)
J Hum Genet
, vol.45
, pp. 231-236
-
-
Amano, K.1
Nomura, Y.2
Segawa, M.3
Yamakawa, K.4
-
2
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188.
-
(1999)
Nat Genet
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
3
-
-
0035853013
-
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
-
Auranen M, Vanhala R, Vosman M, Levander M, Varilo T, Hietala M, Riikonen R, Peltonen L, Järvelä I. 2001. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 56:611-617.
-
(2001)
Neurology
, vol.56
, pp. 611-617
-
-
Auranen, M.1
Vanhala, R.2
Vosman, M.3
Levander, M.4
Varilo, T.5
Hietala, M.6
Riikonen, R.7
Peltonen, L.8
Järvelä, I.9
-
4
-
-
0036820950
-
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
-
Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A. 2002. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet 111:305-309.
-
(2002)
Hum Genet
, vol.111
, pp. 305-309
-
-
Beyer, K.S.1
Blasi, F.2
Bacchelli, E.3
Klauck, S.M.4
Maestrini, E.5
Poustka, A.6
-
5
-
-
0242301564
-
MECP2 mutations or polymorphisms in mentally retarded boys: Diagnostic implications
-
Bourdon V, Philippe C, Martin D, Verloes A, Grandemenge A, Jonveaux P. 2003. MECP2 mutations or polymorphisms in mentally retarded boys: Diagnostic implications. Mol Diagn 7:3-7.
-
(2003)
Mol Diagn
, vol.7
, pp. 3-7
-
-
Bourdon, V.1
Philippe, C.2
Martin, D.3
Verloes, A.4
Grandemenge, A.5
Jonveaux, P.6
-
6
-
-
0033646567
-
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
-
Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. 2000. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms. Am J Hum Genet 67:1428-1436.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1428-1436
-
-
Buyse, I.M.1
Fang, P.2
Hoon, K.T.3
Amir, R.E.4
Zoghbi, H.Y.5
Roa, B.B.6
-
7
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA. 2003. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 28:205-211.
-
(2003)
Pediatr Neurol
, vol.28
, pp. 205-211
-
-
Carney, R.M.1
Wolpert, C.M.2
Ravan, S.A.3
Shahbazian, M.4
Ashley-Koch, A.5
Cuccaro, M.L.6
Vance, J.M.7
Pericak-Vance, M.A.8
-
8
-
-
0037405913
-
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution
-
Christodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution. Hum Mutat 21:466-472.
-
(2003)
Hum Mutat
, vol.21
, pp. 466-472
-
-
Christodoulou, J.1
Grimm, A.2
Maher, T.3
Bennetts, B.4
-
9
-
-
0036371289
-
MECP2 mutation in a boy with language disorder and schizophrenia
-
Cohen D, Lazar G, Couvert P, Desportes V, Lippe D, Mazet P, Heron D. 2002. MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry 159:148-149.
-
(2002)
Am J Psychiatry
, vol.159
, pp. 148-149
-
-
Cohen, D.1
Lazar, G.2
Couvert, P.3
Desportes, V.4
Lippe, D.5
Mazet, P.6
Heron, D.7
-
10
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andres C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. 2001. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 10:941-946.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 941-946
-
-
Couvert, P.1
Bienvenu, T.2
Aquaviva, C.3
Poirier, K.4
Moraine, C.5
Gendrot, C.6
Verloes, A.7
Andres, C.8
Le Fevre, A.C.9
Souville, I.10
Steffann, J.11
Des Portes, V.12
Ropers, H.H.13
Yntema, H.G.14
Fryns, J.P.15
Briault, S.16
Chelly, J.17
Cherif, B.18
-
11
-
-
0033860108
-
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
-
Hampson K, Woods CG, Latif F, Webb T. 2000. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J Med Genet 37:610-612.
-
(2000)
J Med Genet
, vol.37
, pp. 610-612
-
-
Hampson, K.1
Woods, C.G.2
Latif, F.3
Webb, T.4
-
12
-
-
0031837109
-
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
-
Jones PL, Veenstra GJ, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP. 1998. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19:187-191.
-
(1998)
Nat Genet
, vol.19
, pp. 187-191
-
-
Jones, P.L.1
Veenstra, G.J.2
Wade, P.A.3
Vermaak, D.4
Kass, S.U.5
Landsberger, N.6
Strouboulis, J.7
Wolffe, A.P.8
-
13
-
-
0036207456
-
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
-
Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. 2002. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 70:1034-1037.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1034-1037
-
-
Klauck, S.M.1
Lindsay, S.2
Beyer, K.S.3
Splitt, M.4
Burn, J.5
Poustka, A.6
-
14
-
-
10744229982
-
MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics
-
Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, Van Bokhoven H, De Vries BB, Sistermans EA, Hamel BC. 2004. MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics. Eur J Hum Genet 12:24-28.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 24-28
-
-
Kleefstra, T.1
Yntema, H.G.2
Nillesen, W.M.3
Oudakker, A.R.4
Mullaart, R.A.5
Geerdink, N.6
Van Bokhoven, H.7
De Vries, B.B.8
Sistermans, E.A.9
Hamel, B.C.10
-
15
-
-
0037488244
-
Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain
-
Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M. 2003. Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. J Med Genet 40:487-493.
-
(2003)
J Med Genet
, vol.40
, pp. 487-493
-
-
Kudo, S.1
Nomura, Y.2
Segawa, M.3
Fujita, N.4
Nakao, M.5
Schanen, C.6
Tamura, M.7
-
16
-
-
0035118802
-
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
-
Laccone F, Huppke P, Hanefeld F, Meins M. 2001. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum Mutat 17:183-190.
-
(2001)
Hum Mutat
, vol.17
, pp. 183-190
-
-
Laccone, F.1
Huppke, P.2
Hanefeld, F.3
Meins, M.4
-
17
-
-
0036347620
-
MECP2 gene nucleotide changes and their pathogenicity in males: Proceed with caution
-
Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R. 2002. MECP2 gene nucleotide changes and their pathogenicity in males: Proceed with caution. J Med Genet 39:586-588.
-
(2002)
J Med Genet
, vol.39
, pp. 586-588
-
-
Laccone, F.1
Zoll, B.2
Huppke, P.3
Hanefeld, F.4
Pepinski, W.5
Trappe, R.6
-
18
-
-
0034540747
-
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
-
Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF. 2000. Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet 37:E41.
-
(2000)
J Med Genet
, vol.37
-
-
Lam, C.W.1
Yeung, W.L.2
Ko, C.H.3
Poon, P.M.4
Tong, S.F.5
Chan, K.Y.6
Lo, I.F.7
Chan, L.Y.8
Hui, J.9
Wong, V.10
Pang, C.P.11
Lo, Y.M.12
Fok, T.F.13
-
19
-
-
0026747761
-
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
-
Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein P, Bird A. 1992. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69:905-914.
-
(1992)
Cell
, vol.69
, pp. 905-914
-
-
Lewis, J.D.1
Meehan, R.R.2
Henzel, W.J.3
Maurer-Fogy, I.4
Jeppesen, P.5
Klein, P.6
Bird, A.7
-
20
-
-
85047695974
-
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: Implications for genetic counselling
-
Moncla A, Kpebe A, Missirian C, Mancini J, Villard L. 2002. Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: Implications for genetic counselling. Eur J Hum Genet 10:86-89.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 86-89
-
-
Moncla, A.1
Kpebe, A.2
Missirian, C.3
Mancini, J.4
Villard, L.5
-
21
-
-
0037215780
-
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
-
Moog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood-Lenssen AM, Schrander-Stumpel CT. 2003. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol 7:5-12.
-
(2003)
Eur J Paediatr Neurol
, vol.7
, pp. 5-12
-
-
Moog, U.1
Smeets, E.E.2
Van Roozendaal, K.E.3
Schoenmakers, S.4
Herbergs, J.5
Schoonbrood-Lenssen, A.M.6
Schrander-Stumpel, C.T.7
-
22
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A. 1998. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393:386-389.
-
(1998)
Nature
, vol.393
, pp. 386-389
-
-
Nan, X.1
Ng, H.H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
Bird, A.7
-
23
-
-
0034910716
-
DHPLC analysis of the MECP2 gene in Italian Rett patients
-
Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, Vacca M, Regione FD, Piva S, Bortoluzzi S, Gasparini P. 2001. DHPLC analysis of the MECP2 gene in Italian Rett patients. Hum Mutat 18:132-140.
-
(2001)
Hum Mutat
, vol.18
, pp. 132-140
-
-
Nicolao, P.1
Carella, M.2
Giometto, B.3
Tavolato, B.4
Cattin, R.5
Giovannucci-Uzielli, M.L.6
Vacca, M.7
Regione, F.D.8
Piva, S.9
Bortoluzzi, S.10
Gasparini, P.11
-
24
-
-
18244432131
-
MECP2 mutation in male patients with non-specific X-linked mental retardation
-
Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V. 2000. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 481:285-288.
-
(2000)
FEBS Lett
, vol.481
, pp. 285-288
-
-
Orrico, A.1
Lam, C.2
Galli, L.3
Dotti, M.T.4
Hayek, G.5
Tong, S.F.6
Poon, P.M.7
Zappella, M.8
Federico, A.9
Sorrentino, V.10
-
25
-
-
0036917867
-
Rett syndrome and MeCP2: Linking epigenetics and neuronal function
-
Shahbazian MD, Zoghbi HY. 2002. Rett syndrome and MeCP2: Linking epigenetics and neuronal function. Am J Hum Genet 71:1259-1272.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1259-1272
-
-
Shahbazian, M.D.1
Zoghbi, H.Y.2
-
26
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. 1999. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 65:1520-1529.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
Lee, S.S.2
Zhang, X.3
Houwink-Manville, I.4
Song, H.R.5
Amir, R.E.6
Budden, S.7
Naidu, S.8
Pereira, J.L.9
Lo, I.F.10
Zoghbi, H.Y.11
Schanen, N.C.12
Francke, U.13
-
27
-
-
0035054930
-
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
-
Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. 2001. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 38:224-228.
-
(2001)
J Med Genet
, vol.38
, pp. 224-228
-
-
Watson, P.1
Black, G.2
Ramsden, S.3
Barrow, M.4
Super, M.5
Kerr, B.6
Clayton-Smith, J.7
-
28
-
-
0036389872
-
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
-
Winnepenninckx B, Errijgers V, Hayez-Delatte P, Reyniers E, Frank Kooy R. 2002. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening? Hum Mutat 20:249-252.
-
(2002)
Hum Mutat
, vol.20
, pp. 249-252
-
-
Winnepenninckx, B.1
Errijgers, V.2
Hayez-Delatte, P.3
Reyniers, E.4
Frank Kooy, R.5
-
29
-
-
0035991641
-
Low frequency of MECP2 mutations in mentally retarded males
-
Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H. 2002. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 10:487-490.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 487-490
-
-
Yntema, H.G.1
Kleefstra, T.2
Oudakker, A.R.3
Romein, T.4
De Vries, B.B.5
Nillesen, W.6
Sistermans, E.A.7
Brunner, H.G.8
Hamel, B.C.9
Van Bokhoven, H.10
|