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Results: 1 to 20 of 702

1.

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.

Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP.

Ment Retard Dev Disabil Res Rev. 2002;8(2):99-105. Review.

PMID:
12112735
[PubMed - indexed for MEDLINE]
2.

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.

J Mol Med (Berl). 2003 Jun;81(6):346-54. Epub 2003 May 16. Review.

PMID:
12750821
[PubMed - indexed for MEDLINE]
3.

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.

Van den Veyver IB, Zoghbi HY.

Brain Dev. 2001 Dec;23 Suppl 1:S147-51. Review.

PMID:
11738862
[PubMed - indexed for MEDLINE]
4.

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.

Neurology. 2001 Jun 12;56(11):1486-95.

PMID:
11402105
[PubMed - indexed for MEDLINE]
5.

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, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M.

J Med Genet. 2001 Jul;38(7):435-42.

PMID:
11432961
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

Neurology. 2001 Mar 13;56(5):611-7.

PMID:
11245712
[PubMed - indexed for MEDLINE]
7.

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

Amir RE, Zoghbi HY.

Am J Med Genet. 2000 Summer;97(2):147-52. Review.

PMID:
11180222
[PubMed - indexed for MEDLINE]
8.

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J.

Am J Med Genet A. 2003 Apr 15;118A(2):103-14.

PMID:
12655490
[PubMed - indexed for MEDLINE]
9.

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ.

J Child Neurol. 2004 Jul;19(7):503-8.

PMID:
15526954
[PubMed - indexed for MEDLINE]
10.

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.

Eur J Paediatr Neurol. 2003;7(1):5-12. Review.

PMID:
12615169
[PubMed - indexed for MEDLINE]
11.

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.

Eur J Hum Genet. 2000 May;8(5):325-30.

PMID:
10854091
[PubMed - indexed for MEDLINE]
Free Article
12.

MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.

Christodoulou J, Weaving LS.

J Child Neurol. 2003 Oct;18(10):669-74. Review.

PMID:
14649547
[PubMed - indexed for MEDLINE]
13.

The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome.

Nan X, Bird A.

Brain Dev. 2001 Dec;23 Suppl 1:S32-7. Review.

PMID:
11738839
[PubMed - indexed for MEDLINE]
14.

Two affected boys in a Rett syndrome family: clinical and molecular findings.

Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M.

Neurology. 2000 Oct 24;55(8):1188-93.

PMID:
11071498
[PubMed - indexed for MEDLINE]
15.

The role of X-chromosome inactivation in the manifestation of Rett syndrome.

Takagi N.

Brain Dev. 2001 Dec;23 Suppl 1:S182-5. Review.

PMID:
11738869
[PubMed - indexed for MEDLINE]
16.

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.

Nat Genet. 1999 Oct;23(2):185-8.

PMID:
10508514
[PubMed - indexed for MEDLINE]
17.

Methyl-CpG-binding protein 2 mutations in Rett syndrome.

Van den Veyver IB, Zoghbi HY.

Curr Opin Genet Dev. 2000 Jun;10(3):275-9. Review.

PMID:
10826991
[PubMed - indexed for MEDLINE]
18.

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

Hammer S, Dorrani N, Hartiala J, Stein S, Schanen NC.

Am J Med Genet A. 2003 Oct 15;122A(3):223-6.

PMID:
12966522
[PubMed - indexed for MEDLINE]
19.

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

Zappella M, Meloni I, Longo I, Hayek G, Renieri A.

Am J Med Genet. 2001 Nov 15;104(1):14-22.

PMID:
11746022
[PubMed - indexed for MEDLINE]
20.

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.

Wan M, Zhao K, Lee SS, Francke U.

Hum Mol Genet. 2001 May 1;10(10):1085-92.

PMID:
11331619
[PubMed - indexed for MEDLINE]
Free Article

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