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Items: 1 to 20 of 117

1.

Guidelines for reporting clinical features in cases with MECP2 mutations.

Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M.

Brain Dev. 2001 Jul;23(4):208-11.

PMID:
11376997
2.

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
3.
4.

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
5.

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
6.

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.

7.

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 Dev. 2001 Jul;23(4):212-5.

PMID:
11376998
8.

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
9.

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D.

Pediatr Neurol. 2005 May;32(5):355-7.

PMID:
15866439
10.

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
11.

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.

Kim SJ, Cook EH Jr.

Hum Mutat. 2000 Apr;15(4):382-3.

PMID:
10737989
12.

A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.

Nielsen JB, Ravn K, Schwartz M.

Brain Dev. 2001 Dec;23 Suppl 1:S230-2.

PMID:
11738879
13.

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
14.

[Functional significance of MeCP2 mutations in patients with Rett syndrome].

Kudo S.

No To Hattatsu. 2002 May;34(3):224-9. Japanese.

PMID:
12030011
15.

MeCP2 in neurons: closing in on the causes of Rett syndrome.

Caballero IM, Hendrich B.

Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R19-26. Review. Erratum in: Hum Mol Genet. 2005 Jul 15;14(14):2089.

PMID:
15809268
16.
17.

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
18.

Refining the phenotype of common mutations in Rett syndrome.

Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J.

J Med Genet. 2004 Jan;41(1):25-30. No abstract available.

19.

The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome.

Ishii T, Makita Y, Ogawa A, Amamiya S, Yamamoto M, Miyamoto A, Oki J.

Brain Dev. 2001 Dec;23 Suppl 1:S161-4.

PMID:
11738865
20.

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

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