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Items: 1 to 20 of 240

1.

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

Miltenberger-Miltenyi G, Laccone F.

Hum Mutat. 2003 Aug;22(2):107-15. Review.

PMID:
12872250
2.

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.

Am J Hum Genet. 2001 May;68(5):1093-101. Epub 2001 Apr 17.

3.

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.

Am J Hum Genet. 2000 Dec;67(6):1428-36. Epub 2000 Oct 30.

4.

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 JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I.

Brain Dev. 2005 Apr;27(3):211-7.

PMID:
15737703
5.

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
6.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

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.

Hum Mol Genet. 2000 Apr 12;9(7):1119-29. Erratum in: Hum Mol Genet 2000 Jul 1;9(11):1717.

PMID:
10767337
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
8.

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

Amano K, Nomura Y, Segawa M, Yamakawa K.

J Hum Genet. 2000;45(4):231-6.

PMID:
10944854
9.

MECP2 gene mutation analysis in Chinese patients with Rett syndrome.

Pan H, Wang YP, Bao XH, Meng HD, Zhang Y, Wu XR, Shen Y.

Eur J Hum Genet. 2002 Aug;10(8):484-6.

10.

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
11.

Parental origin of de novo MECP2 mutations in Rett syndrome.

Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T.

Eur J Hum Genet. 2001 Mar;9(3):231-6.

12.

MECP2 mutation screening in Swedish classical Rett syndrome females.

Erlandson A, Hallberg B, Hagberg B, Wahlström J, Martinsson T.

Eur Child Adolesc Psychiatry. 2001 Jun;10(2):117-21.

PMID:
11469283
13.

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
14.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

Brain Dev. 2001 Dec;23 Suppl 1:S138-43.

PMID:
11738860
15.

MECP2 is highly mutated in X-linked mental retardation.

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B.

Hum Mol Genet. 2001 Apr 15;10(9):941-6.

PMID:
11309367
16.

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J.

Hum Mol Genet. 2000 May 22;9(9):1377-84.

PMID:
10814719
17.

Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

Huppke P, Ohlenbusch A, Brendel C, Laccone F, Gärtner J.

Am J Med Genet A. 2005 Aug 30;137(2):136-8.

PMID:
16086395
18.

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
19.

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.

Hum Mutat. 2002 Oct;20(4):249-52.

PMID:
12325019
20.

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.

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