-
1
-
-
0029347068
-
The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse
-
Adler DA, Quaderi NA, Brown SD, Chapman VM, Moore J, Tate P, Disteche CM. 1995. The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse. Mamm Genome 6:491-492.
-
(1995)
Mamm Genome
, vol.6
, pp. 491-492
-
-
Adler, D.A.1
Quaderi, N.A.2
Brown, S.D.3
Chapman, V.M.4
Moore, J.5
Tate, P.6
Disteche, C.M.7
-
2
-
-
0033646967
-
Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
-
Amir R, Zoghbi H. 2000. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 97:147-152.
-
(2000)
Am J Med Genet
, vol.97
, pp. 147-152
-
-
Amir, R.1
Zoghbi, H.2
-
3
-
-
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 [see comments]. 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
-
4
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. 2000. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 47:670-679.
-
(2000)
Ann Neurol
, vol.47
, pp. 670-679
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Schultz, R.3
Malicki, D.M.4
Tran, C.Q.5
Dahle, E.J.6
Philippi, A.7
Timar, L.8
Percy, A.K.9
Motil, K.J.10
Lichtarge, O.11
Smith, E.O.12
Glaze, D.G.13
Zoghbi, H.Y.14
-
5
-
-
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
-
6
-
-
0034761333
-
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
-
Armstrong J, Pineda M, Aibar E, Gcan E, Monros E. 2001. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol 50:692.
-
(2001)
Ann Neurol
, vol.50
, pp. 692
-
-
Armstrong, J.1
Pineda, M.2
Aibar, E.3
Gcan, E.4
Monros, E.5
-
7
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Nomenclature working group
-
Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature working group. Hum Mutat 11:1-3.
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
8
-
-
0028232414
-
Rett syndrome: Random X chromosome inactivation
-
Anvret M, Wahlstrom J. 1994. Rett syndrome: random X chromosome inactivation [letter]. Clin Genet 45:274-275.
-
(1994)
Clin Genet
, vol.45
, pp. 274-275
-
-
Anvret, M.1
Wahlstrom, J.2
-
9
-
-
0035888596
-
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
-
Aradhya S, Bardaro T, Galgoczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL. 2001. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 10:2557-2567.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2557-2567
-
-
Aradhya, S.1
Bardaro, T.2
Galgoczy, P.3
Yamagata, T.4
Esposito, T.5
Patlan, H.6
Ciccodicola, A.7
Munnich, A.8
Kenwrick, S.9
Platzer, M.10
D'Urso, M.11
Nelson, D.L.12
-
10
-
-
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, Jarvela 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
Jarvela, I.9
-
11
-
-
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, International Molecular Genetic Study Of Autism C. 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
-
12
-
-
0034701999
-
MECP2 mutations account for most cases of typical forms of Rett syndrome
-
Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. 2000. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 9:1377-1384.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1377-1384
-
-
Bienvenu, T.1
Carrie, A.2
De Roux, N.3
Vinet, M.C.4
Jonveaux, P.5
Couvert, P.6
Villard, L.7
Arzimanoglou, A.8
Beldjord, C.9
Fontes, M.10
Tardieu, M.11
Chelly, J.12
-
13
-
-
0035662617
-
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: Diagnostic implications
-
Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P. 2001a. Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications. J Med Genet 38:867-871.
-
(2001)
J Med Genet
, vol.38
, pp. 867-871
-
-
Bourdon, V.1
Philippe, C.2
Bienvenu, T.3
Koenig, B.4
Tardieu, M.5
Chelly, J.6
Jonveaux, P.7
-
14
-
-
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
-
15
-
-
0033152745
-
The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
-
Chandler SP, Guschin D, Landsberger N, Wolffe AP. 1999. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemistry 38:7008-7018.
-
(1999)
Biochemistry
, vol.38
, pp. 7008-7018
-
-
Chandler, S.P.1
Guschin, D.2
Landsberger, N.3
Wolffe, A.P.4
-
16
-
-
0036120178
-
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome
-
Chae JH, Hwang YS, Kim KJ. 2002. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 17:33-36.
-
(2002)
J Child Neurol
, vol.17
, pp. 33-36
-
-
Chae, J.H.1
Hwang, Y.S.2
Kim, K.J.3
-
17
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
-
published erratum appears in Hum Mol Genet 2000; 9:1717
-
Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location [published erratum appears in Hum Mol Genet 2000; 9:1717]. Hum Mol Genet 9:1119-1129.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1119-1129
-
-
Cheadle, J.P.1
Gill, H.2
Fleming, N.3
Maynard, J.4
Kerr, A.5
Leonard, H.6
Krawczak, M.7
Cooper, D.N.8
Lynch, S.9
Thomas, N.10
Hughes, H.11
Hulten, M.12
Ravine, D.13
Sampson, J.R.14
Clarke, A.15
-
18
-
-
0037405913
-
RettBASE: The IRSA MECP2 variation data-base: A new mutation database in evolution
-
Christodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: the IRSA MECP2 variation data-base: 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
-
19
-
-
0034596477
-
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
-
Clayton-Smith J, Watson P, Ramsden S, Black GC. 2000. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 356:830-832.
-
(2000)
Lancet
, vol.356
, pp. 830-832
-
-
Clayton-Smith, J.1
Watson, P.2
Ramsden, S.3
Black, G.C.4
-
20
-
-
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
-
21
-
-
0041375479
-
Mutation analysis of the MECP2 gene in patients with Rett syndrome
-
Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, Quattrone A, Fiumara A, Barone R, Pavone L, Nistico R, Mangone L. 2003. Mutation analysis of the MECP2 gene in patients with Rett syndrome. Am J Med Genet 117A:184-187.
-
(2003)
Am J Med Genet
, vol.117 A
, pp. 184-187
-
-
Conforti, F.L.1
Mazzei, R.2
Magariello, A.3
Patitucci, A.4
Gabriele, A.L.5
Muglia, M.6
Quattrone, A.7
Fiumara, A.8
Barone, R.9
Pavone, L.10
Nistico, R.11
Mangone, L.12
-
22
-
-
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
-
23
-
-
0032776138
-
A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3″-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
-
Coy JF, Sedlacek Z, Bachner D, Delius H, Poustka A. 1999. A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3″-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression. Hum Mol Genet 8:1253-1262.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1253-1262
-
-
Coy, J.F.1
Sedlacek, Z.2
Bachner, D.3
Delius, H.4
Poustka, A.5
-
24
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
25
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
26
-
-
0034088550
-
Preserved speech variant is allelic of classic Rett syndrome
-
De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A. 2000. Preserved speech variant is allelic of classic Rett syndrome. Eur J Hum Genet 8:325-330.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 325-330
-
-
De Bona, C.1
Zappella, M.2
Hayek, G.3
Meloni, I.4
Vitelli, F.5
Bruttini, M.6
Cusano, R.7
Loffredo, P.8
Longo, I.9
Renieri, A.10
-
27
-
-
0030188404
-
Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
-
D'Esposito M, Quaderi NA, Ciccodicola A, Bruni P, Esposito T, D'Urso M, Brown SD. 1996. Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm Genome 7:533-535.
-
(1996)
Mamm Genome
, vol.7
, pp. 533-535
-
-
D'Esposito, M.1
Quaderi, N.A.2
Ciccodicola, A.3
Bruni, P.4
Esposito, T.5
D'Urso, M.6
Brown, S.D.7
-
28
-
-
0037154144
-
A Rett syndrome MECP2 mutation that causes mental retardation in men
-
Dotti MT, Orrico A, De Stefano N, Battisti C, Sicurelli F, Severi S, Lam CW, Galli L, Sorrentino V, Federico A. 2002. A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology 58:226-230.
-
(2002)
Neurology
, vol.58
, pp. 226-230
-
-
Dotti, M.T.1
Orrico, A.2
De Stefano, N.3
Battisti, C.4
Sicurelli, F.5
Severi, S.6
Lam, C.W.7
Galli, L.8
Sorrentino, V.9
Federico, A.10
-
29
-
-
0034974552
-
MECP2 mutation screening in Swedish classical Rett syndrome females
-
Erlandson A, Hallberg B, Hagberg B, Wahlstrom J, Martinsson T. 2001. MECP2 mutation screening in Swedish classical Rett syndrome females. Eur Child Adolesc Psychiatry 10:117-121.
-
(2001)
Eur Child Adolesc Psychiatry
, vol.10
, pp. 117-121
-
-
Erlandson, A.1
Hallberg, B.2
Hagberg, B.3
Wahlstrom, J.4
Martinsson, T.5
-
30
-
-
0035080490
-
Parental origin of de novo MECP2 mutations in Rett syndrome
-
Girard M, Couvert P, Carrie A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. 2001. Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet 9:231-236.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 231-236
-
-
Girard, M.1
Couvert, P.2
Carrie, A.3
Tardieu, M.4
Chelly, J.5
Beldjord, C.6
Bienvenu, T.7
-
31
-
-
0036211908
-
MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings
-
Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, Mullaart RA, Hamel BC. 2002. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 33:33-36.
-
(2002)
Neuropediatrics
, vol.33
, pp. 33-36
-
-
Geerdink, N.1
Rotteveel, J.J.2
Lammens, M.3
Sistermans, E.A.4
Heikens, G.T.5
Gabreels, F.J.6
Mullaart, R.A.7
Hamel, B.C.8
-
32
-
-
0035192501
-
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, Uzielli ML. 2001. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. Brain Dev 23 Suppl 1:S242-5.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Giunti, L.1
Pelagatti, S.2
Lazzerini, V.3
Guarducci, S.4
Lapi, E.5
Coviello, S.6
Cecconi, A.7
Ombroni, L.8
Andreucci, E.9
Sani, I.10
Brusaferri, A.11
Lasagni, A.12
Ricotti, G.13
Giometto, B.14
Nicolao, P.15
Gasparini, P.16
Granatiero, M.17
Uzielli, M.L.18
-
33
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
-
Hagberg B, Aicardi J, Dias K, Ramos O. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471-479.
-
(1983)
Ann Neurol
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
34
-
-
0021815213
-
Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls
-
Hagberg B. 1985. Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 74:405-408.
-
(1985)
Acta Paediatr Scand
, vol.74
, pp. 405-408
-
-
Hagberg, B.1
-
35
-
-
0031454558
-
Rett syndrome: Epidemiology and geographical variability
-
Hagberg B, Hagberg G. 1997. Rett syndrome: epidemiology and geographical variability. Eur Child Adolesc Psychiatry 6:5-7.
-
(1997)
Eur Child Adolesc Psychiatry
, vol.6
, pp. 5-7
-
-
Hagberg, B.1
Hagberg, G.2
-
36
-
-
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 [letter]. 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
-
37
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S. 2001. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56:1486-1495.
-
(2001)
Neurology
, vol.56
, pp. 1486-1495
-
-
Hoffbuhr, K.1
Devaney, J.M.2
LaFleur, B.3
Sirianni, N.4
Scacheri, C.5
Giron, J.6
Schuette, J.7
Innis, J.8
Marino, M.9
Philippart, M.10
Narayanan, V.11
Umansky, R.12
Kronn, D.13
Hoffman, E.P.14
Naidu, S.15
-
38
-
-
0036273943
-
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype
-
Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. 2002. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 8:99-105.
-
(2002)
Ment Retard Dev Disabil Res Rev
, vol.8
, pp. 99-105
-
-
Hoffbuhr, K.C.1
Moses, L.M.2
Jerdonek, M.A.3
Naidu, S.4
Hoffman, E.P.5
-
39
-
-
0034701904
-
Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
-
Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. 2000. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 9:1369-1375.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
Engel, W.4
Hanefeld, F.5
-
40
-
-
0036083275
-
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
-
Huppke P, Held M, Hanefeld F, Engel W, Laccone F. 2002. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 33:63-68.
-
(2002)
Neuropediatrics
, vol.33
, pp. 63-68
-
-
Huppke, P.1
Held, M.2
Hanefeld, F.3
Engel, W.4
Laccone, F.5
-
41
-
-
0035078664
-
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
-
Imessaoudene B, Bonnefont JP, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J. 2001. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet 38:171-174.
-
(2001)
J Med Genet
, vol.38
, pp. 171-174
-
-
Imessaoudene, B.1
Bonnefont, J.P.2
Royer, G.3
Cormier-Daire, V.4
Lyonnet, S.5
Lyon, G.6
Munnich, A.7
Amiel, J.8
-
42
-
-
0035007768
-
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. 2001. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain Dev 23:212-215.
-
(2001)
Brain Dev
, vol.23
, pp. 212-215
-
-
Inui, K.1
Akagi, M.2
Ono, J.3
Tsukamoto, H.4
Shimono, K.5
Mano, T.6
Imai, K.7
Yamada, M.8
Muramatsu, T.9
Sakai, N.10
Okada, S.11
-
43
-
-
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
-
44
-
-
0036557829
-
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
-
Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC. 2002. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin Genet 61:359-362.
-
(2002)
Clin Genet
, vol.61
, pp. 359-362
-
-
Kleefstra, T.1
Yntema, H.G.2
Oudakker, A.R.3
Romein, T.4
Sistermans, E.5
Nillessen, W.6
Van Bokhoven, H.7
De Vries, B.B.8
Hamel, B.C.9
-
45
-
-
0036235773
-
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes
-
Kutsche K, Ressler B, Katzera HG, Orth U, Gillessen-Kaesbach G, Morlot S, Schwinger E, Gal A. 2002. Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes. Hum Mutat 19:526-535.
-
(2002)
Hum Mutat
, vol.19
, pp. 526-535
-
-
Kutsche, K.1
Ressler, B.2
Katzera, H.G.3
Orth, U.4
Gillessen-Kaesbach, G.5
Morlot, S.6
Schwinger, E.7
Gal, A.8
-
46
-
-
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
-
47
-
-
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
-
48
-
-
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 TE 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.E.13
-
50
-
-
0034969850
-
Occurrence of Rett syndrome in boys
-
Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, Raffaele LS, Engerstrom IW, Schanen C. 2001. Occurrence of Rett syndrome in boys. J Child Neurol 16:333-338.
-
(2001)
J Child Neurol
, vol.16
, pp. 333-338
-
-
Leonard, H.1
Silberstein, J.2
Falk, R.3
Houwink-Manville, I.4
Ellaway, C.5
Raffaele, L.S.6
Engerstrom, I.W.7
Schanen, C.8
-
51
-
-
0042878489
-
Absence of MeCP2 mutations in patients from the South Carolina autism project
-
Lobo-Menendez F, Sossey-Alaoui K, Bell JM, Copeland-Yates SA, Plank SM, Sanford SO, Skinner C, Simensen RJ, Schroer RJ, Michaelis RC. 2003. Absence of MeCP2 mutations in patients from the South Carolina autism project. Am J Med Genet 117B:97-101.
-
(2003)
Am J Med Genet
, vol.117 B
, pp. 97-101
-
-
Lobo-Menendez, F.1
Sossey-Alaoui, K.2
Bell, J.M.3
Copeland-Yates, S.A.4
Plank, S.M.5
Sanford, S.O.6
Skinner, C.7
Simensen, R.J.8
Schroer, R.J.9
Michaelis, R.C.10
-
52
-
-
0036818764
-
De novo MECP2 mutation in a 46, XX male patient with Rett syndrome
-
Maiwald R, Bonte A, Jung H, Bitter P, Storm Z, Laccone F, Herkenrath P. 2002. De novo MECP2 mutation in a 46, XX male patient with Rett syndrome. Neurogenetics 4:107-108.
-
(2002)
Neurogenetics
, vol.4
, pp. 107-108
-
-
Maiwald, R.1
Bonte, A.2
Jung, H.3
Bitter, P.4
Storm, Z.5
Laccone, F.6
Herkenrath, P.7
-
53
-
-
0026658662
-
Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA
-
Meehan RR, Lewis JD, Bird AP. 1992. Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res 20:5085-5092.
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 5085-5092
-
-
Meehan, R.R.1
Lewis, J.D.2
Bird, A.P.3
-
54
-
-
0033804436
-
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
-
Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A. 2000. A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 67:982-985.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 982-985
-
-
Meloni, I.1
Bruttini, M.2
Longo, I.3
Mari, F.4
Rizzolio, F.5
D'Adamo, P.6
Denvriendt, K.7
Fryns, J.P.8
Toniolo, D.9
Renieri, A.10
-
55
-
-
0035727491
-
Mutation analysis in Rett syndrome
-
Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. 2001. Mutation analysis in Rett syndrome. Genet Test 5:321-5.
-
(2001)
Genet Test
, vol.5
, pp. 321-325
-
-
Milunsky, J.M.1
Lebo, R.V.2
Ikuta, T.3
Maher, T.A.4
Haverty, C.E.5
Milunsky, A.6
-
56
-
-
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
-
57
-
-
0035196349
-
Rett syndrome in Spain: Mutation analysis and clinical correlations
-
Monros E, Armstrong J, Aibar E, Poo P, Canos I, Pineda M. 2001. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 23 Suppl 1:8251-8253.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
, pp. 8251-8253
-
-
Monros, E.1
Armstrong, J.2
Aibar, E.3
Poo, P.4
Canos, I.5
Pineda, M.6
-
58
-
-
0342437491
-
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
-
Nan X, Campoy FJ, Bird A. 1997. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88:471-481.
-
(1997)
Cell
, vol.88
, pp. 471-481
-
-
Nan, X.1
Campoy, F.J.2
Bird, A.3
-
59
-
-
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 [see comments]. 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
-
60
-
-
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
-
61
-
-
0035076360
-
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
-
Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. 2001. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet 9:178-184.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 178-184
-
-
Nielsen, J.B.1
Henriksen, K.F.2
Hansen, C.3
Silahtaroglu, A.4
Schwartz, M.5
Tommerup, N.6
-
62
-
-
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
-
63
-
-
0037271866
-
No correlation between phenotype and genotype in boys with a truncating MECP2 mutation
-
Ravn K, Nielsen JB, Uldall P, Hansen FJ, Schwartz M. 2003. No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. J Med Genet 40:e5.
-
(2003)
J Med Genet
, vol.40
-
-
Ravn, K.1
Nielsen, J.B.2
Uldall, P.3
Hansen, F.J.4
Schwartz, M.5
-
64
-
-
0034007933
-
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
-
Reichwald K, Thiesen J, Wiehe T, Weitzel J, Poustka WA, Rosenthal A, Platzer M, Stratling WH, Kioschis P. 2000. Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. Mamm Genome 11:182-190.
-
(2000)
Mamm Genome
, vol.11
, pp. 182-190
-
-
Reichwald, K.1
Thiesen, J.2
Wiehe, T.3
Weitzel, J.4
Poustka, W.A.5
Rosenthal, A.6
Platzer, M.7
Stratling, W.H.8
Kioschis, P.9
-
65
-
-
0042905824
-
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome
-
Schollen E, Smeets E, Deflem E, Fryns JP, Matthijs G. 2003. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome. Hum Mutat 22:116-120
-
(2003)
Hum Mutat
, vol.22
, pp. 116-120
-
-
Schollen, E.1
Smeets, E.2
Deflem, E.3
Fryns, J.P.4
Matthijs, G.5
-
66
-
-
0033358539
-
Rett syndrome in a boy with a 47,XXY karyotype
-
Schwartzman JS, Zatz M, dos Reis Vasquez L, Ribeiro Gomes R, Koiffmann CP, Fridman C, Guimaraes Otto P. 1999. Rett syndrome in a boy with a 47,XXY karyotype [letter; comment]. Am J Hum Genet 64:1781-1785.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1781-1785
-
-
Schwartzman, J.S.1
Zatz, M.2
Dos Reis Vasquez, L.3
Ribeiro Gomes, R.4
Koiffmann, C.P.5
Fridman, C.6
Guimaraes Otto, P.7
-
67
-
-
0034891348
-
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
-
Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. 2001. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32:162-164.
-
(2001)
Neuropediatrics
, vol.32
, pp. 162-164
-
-
Schwartzman, J.S.1
Bernardino, A.2
Nishimura, A.3
Gomes, R.R.4
Zatz, M.5
-
68
-
-
0037158475
-
Balanced X chromosome inactivation patterns in the Rett syndrome brain
-
Shahbazian MD, Sun Y, Zoghbi HY. 2002. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet 111:164-168.
-
(2002)
Am J Med Genet
, vol.111
, pp. 164-168
-
-
Shahbazian, M.D.1
Sun, Y.2
Zoghbi, H.Y.3
-
69
-
-
0030009791
-
High male: Female ratio of germ-line mutations: An alternative explanation forpostulated gestational lethality in males in X-linked dominant disorders
-
Thomas, G.H. 1996. High male:female ratio of germ-line mutations: an alternative explanation forpostulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet 58:1364-1368.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1364-1368
-
-
Thomas, G.H.1
-
70
-
-
0035013739
-
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. 2001. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 68:1093-1101.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1093-1101
-
-
Trappe, R.1
Laccone, F.2
Cobilanschi, J.3
Meins, M.4
Huppke, P.5
Hanefeld, F.6
Engel, W.7
-
71
-
-
85047697344
-
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
-
Topcu M, Akyerli C, Sayi A, Toruner GA, Kocoglu SR, Cimbis M, Ozcelik T. 2002. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 10:77-81.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 77-81
-
-
Topcu, M.1
Akyerli, C.2
Sayi, A.3
Toruner, G.A.4
Kocoglu, S.R.5
Cimbis, M.6
Ozcelik, T.7
-
72
-
-
10644288726
-
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: Hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
-
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. 2001. MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. Brain Dev 23 (Suppl 1):S246-S250.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Vacca, M.1
Filippini, F.2
Budillon, A.3
Rossi, V.4
Della Ragione, F.5
De Bonis, M.L.6
Mercadante, G.7
Manzati, E.8
Gualandi, F.9
Bigoni, S.10
Trabanelli, C.11
Pini, G.12
Calzolari, E.13
Ferlini, A.14
Meloni, I.15
Hayek, G.16
Zappella, M.17
Renieri, A.18
D'Urso, M.19
D'Esposito, M.20
Macdonald, F.21
Kerr, A.22
Dhanjal, S.23
Hulten, M.24
more..
-
73
-
-
0029800839
-
Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization
-
Vilain A, Apiou F, Vogt N, Dutrillaux B, Malfoy B. 1996. Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization. Cytogenet Cell Genet 74:293-294.
-
(1996)
Cytogenet Cell Genet
, vol.74
, pp. 293-294
-
-
Vilain, A.1
Apiou, F.2
Vogt, N.3
Dutrillaux, B.4
Malfoy, B.5
-
74
-
-
0034711147
-
Two affected boys in a Rett syndrome family: Clinical and molecular findings
-
Villard L, Kpebe A, Cardoso AK, Chelly PJ, Tardieu PM, Fontes M. 2000. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 55:1188-1193.
-
(2000)
Neurology
, vol.55
, pp. 1188-1193
-
-
Villard, L.1
Kpebe, A.2
Cardoso, A.K.3
Chelly, P.J.4
Tardieu, P.M.5
Fontes, M.6
-
75
-
-
0034931813
-
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implications for the disease
-
Villard L, Levy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontes M. 2001. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet 38:435-442.
-
(2001)
J Med Genet
, vol.38
, pp. 435-442
-
-
Villard, L.1
Levy, N.2
Xiang, F.3
Kpebe, A.4
Labelle, V.5
Chevillard, C.6
Zhang, Z.7
Schwartz, C.E.8
Tardieu, M.9
Chelly, J.10
Anvret, M.11
Fontes, M.12
-
76
-
-
0035204270
-
Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): A retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys)
-
Vorsanova SG, Yurov YB, Ulas VY, Demidova IA, Sharonin VO, Kolotii AD, Gorbatchevskaia NL, Beresheva AK, Soloviev IV. 2001. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev 23(Suppl 1):S196-S201.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Vorsanova, S.G.1
Yurov, Y.B.2
Ulas, V.Y.3
Demidova, I.A.4
Sharonin, V.O.5
Kolotii, A.D.6
Gorbatchevskaia, N.L.7
Beresheva, A.K.8
Soloviev, I.V.9
-
77
-
-
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
-
78
-
-
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
-
79
-
-
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 F, 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, F.3
Reyniers, E.4
Frank Kooy, R.5
-
80
-
-
0034060636
-
Mutation screening in Rett syndrome patients
-
Xiang F, Buervenich S, Nicolao P, Bailey ME, Zhang Z, Anvret M. 2000. Mutation screening in Rett syndrome patients. J Med Genet 37:250-255.
-
(2000)
J Med Genet
, vol.37
, pp. 250-255
-
-
Xiang, F.1
Buervenich, S.2
Nicolao, P.3
Bailey, M.E.4
Zhang, Z.5
Anvret, M.6
-
81
-
-
0034832185
-
Closely related Swedish Rett Syndrome females: None with MECP2 mutation revealed
-
Xiang F, Stenbom Y, Anvret M, Hagberg B. 2001. Closely related Swedish Rett Syndrome females: none with MECP2 mutation revealed. Neuropediatrics 32:217-218.
-
(2001)
Neuropediatrics
, vol.32
, pp. 217-218
-
-
Xiang, F.1
Stenbom, Y.2
Anvret, M.3
Hagberg, B.4
-
82
-
-
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. 2002a. 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
-
83
-
-
18244382110
-
In-frame deletion in MECP2 causes mild nonspecific mental retardation
-
Yntema HG, Oudakker AR, Kleefstra T, Hamel BC, van Bokhoven H, Chelly J, Kalscheuer VM, Fryns JP, Raynaud M, Moizard MP, Moraine C. 2002b. In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 107:81-83.
-
(2002)
Am J Med Genet
, vol.107
, pp. 81-83
-
-
Yntema, H.G.1
Oudakker, A.R.2
Kleefstra, T.3
Hamel, B.C.4
Van Bokhoven, H.5
Chelly, J.6
Kalscheuer, V.M.7
Fryns, J.P.8
Raynaud, M.9
Moizard, M.P.10
Moraine, C.11
-
84
-
-
0035504192
-
Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription
-
Yu F, Zingler N, Schumann G, Stratling WH. 2001. Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription. Nucleic Acids Res 29:4493-4501.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 4493-4501
-
-
Yu, F.1
Zingler, N.2
Schumann, G.3
Stratling, W.H.4
-
85
-
-
0036120278
-
Rett syndrome: Clinical manifestations in males with MECP2 mutations
-
Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, Shomrat R, Orr-Urtreger A. 2002. Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol 17:20-24.
-
(2002)
J Child Neurol
, vol.17
, pp. 20-24
-
-
Zeev, B.B.1
Yaron, Y.2
Schanen, N.C.3
Wolf, H.4
Brandt, N.5
Ginot, N.6
Shomrat, R.7
Orr-Urtreger, A.8
|