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Items: 1 to 20 of 226

1.

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.

Brain Dev. 2001 Dec;23 Suppl 1:S242-5.

PMID:
11738883
2.

Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech.

Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T.

Brain Dev. 2001 Dec;23 Suppl 1:S157-60.

PMID:
11738864
3.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

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

PMID:
11738860
4.

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.

5.

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
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 in Spain: mutation analysis and clinical correlations.

Monrós E, Armstrong J, Aibar E, Poo P, Canós I, Pineda M.

Brain Dev. 2001 Dec;23 Suppl 1:S251-3.

PMID:
11738885
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 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
10.

[Mutational analysis of MECP2 gene in Rett syndrome].

Pan H, Wang Y, Meng H, Bao X, Zhang Y, Shen Y, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Aug;19(4):276-80. Chinese.

PMID:
12170461
11.

MECP2 mutations in Serbian Rett syndrome patients.

Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.

Acta Neurol Scand. 2007 Dec;116(6):413-9.

PMID:
17986102
12.

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
13.

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
14.

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
15.

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
16.

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
17.

[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].

Kondo I, Yamagata H.

No To Hattatsu. 2002 May;34(3):219-23. Japanese.

PMID:
12030010
18.

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
19.

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
20.

[Clinical and molecular genetic findings in four girls with Rett syndrome].

Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V.

Klin Padiatr. 2002 Sep-Oct;214(5):291-4. German.

PMID:
12235545

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