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Items: 1 to 20 of 590

1.

Rett syndrome: of girls and mice--lessons for regression in autism.

Glaze DG.

Ment Retard Dev Disabil Res Rev. 2004;10(2):154-8. Review.

PMID:
15362175
2.

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY.

Hum Mol Genet. 2005 Jan 15;14(2):205-20. Epub 2004 Nov 17.

PMID:
15548546
3.

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
4.

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7.

PMID:
12707946
5.

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
6.

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H.

Clin Dysmorphol. 2001 Jul;10(3):185-8.

PMID:
11446411
7.

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.

Brain Dev. 2001 Dec;23 Suppl 1:S196-201.

PMID:
11738872
8.

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
9.
10.

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
11.

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
12.

[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
13.

Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.

Thatcher KN, Peddada S, Yasui DH, Lasalle JM.

Hum Mol Genet. 2005 Mar 15;14(6):785-97. Epub 2005 Feb 2.

PMID:
15689352
14.

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.

15.

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
16.

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H.

Neuron. 2002 Jul 18;35(2):243-54.

17.

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R, Fraga MF, Herranz M, Avila S, Pineda M, Monros E, Esteller M.

Hum Genet. 2005 Jan;116(1-2):91-104. Epub 2004 Nov 11.

PMID:
15549394
18.

The story of Rett syndrome: from clinic to neurobiology.

Chahrour M, Zoghbi HY.

Neuron. 2007 Nov 8;56(3):422-37. Review.

19.

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.

Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G, Naidu S.

Brain Dev. 2005 Aug;27(5):331-9.

PMID:
16023547
20.

Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.

Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y.

J Neuropathol Exp Neurol. 2007 Feb;66(2):117-23.

PMID:
17278996

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