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Items: 1 to 20 of 524

1.

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
2.

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.

Topçu M, Akyerli C, Sayi A, Törüner GA, Koçoğlu SR, Cimbiş M, Ozçelik T.

Eur J Hum Genet. 2002 Jan;10(1):77-81.

3.

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
4.

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
5.

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A.

Am J Hum Genet. 2000 Oct;67(4):982-5. Epub 2000 Sep 12.

6.

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC.

Clin Genet. 2002 May;61(5):359-62.

PMID:
12081720
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.

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
9.

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
10.

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
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.

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C.

Eur J Hum Genet. 2001 Jul;9(7):556-8.

13.

MECP2 mutation in male patients with non-specific X-linked mental retardation.

Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V.

FEBS Lett. 2000 Sep 22;481(3):285-8.

14.

Rethinking the fate of males with mutations in the gene that causes Rett syndrome.

Schanen C.

Brain Dev. 2001 Dec;23 Suppl 1:S144-6. Review.

PMID:
11738861
15.

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
16.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

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

PMID:
11738860
17.

Rett syndrome: a prototypical neurodevelopmental disorder.

Neul JL, Zoghbi HY.

Neuroscientist. 2004 Apr;10(2):118-28. Review.

PMID:
15070486
18.

Rett syndrome: clinical correlates of the newly discovered gene.

Percy AK.

Brain Dev. 2001 Dec;23 Suppl 1:S202-5. Review.

PMID:
11738873
19.

Classic Rett syndrome in a boy with R133C mutation of MECP2.

Masuyama T, Matsuo M, Jing JJ, Tabara Y, Kitsuki K, Yamagata H, Kan Y, Miki T, Ishii K, Kondo I.

Brain Dev. 2005 Sep;27(6):439-42.

PMID:
16122633
20.

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Bourdon V, Philippe C, Martin D, Verloès A, Grandemenge A, Jonveaux P.

Mol Diagn. 2003;7(1):3-7.

PMID:
14529314

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