PubMed

Very mild cases of Rett syndrome with skewed X inactivation.

Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J.

J Med Genet. 2006 Oct;43(10):814-6. Epub 2006 May 11.PMID: 16690727 [PubMed - indexed for MEDLINE]Related articlesFree article

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.

Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K.

Clin Genet. 2008 Mar;73(3):257-61. Epub 2007 Jan 8.PMID: 18190595 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.

J Mol Med. 2003 Jun;81(6):346-54. Epub 2003 May 16. Review.PMID: 12750821 [PubMed - indexed for MEDLINE]Related articles

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

Raizis AM, Saleem M, MacKay R, George PM.

N Z Med J. 2009 Jun 5;122(1296):21-8.PMID: 19652677 [PubMed - indexed for MEDLINE]Related articles

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.

J Child Neurol. 2008 Jan;23(1):22-5.PMID: 18184939 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 11432961 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

MECP2 deletions and genotype-phenotype correlation in Rett syndrome.

Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F.

Am J Med Genet A. 2007 Dec 1;143A(23):2775-84.PMID: 17968969 [PubMed - indexed for MEDLINE]Related articles

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA, Morris MA.

Brain Dev. 2007 Jan;29(1):47-50. Epub 2006 Jul 17.PMID: 16844334 [PubMed - indexed for MEDLINE]Related articles

Preserved speech variant is allelic of classic Rett syndrome.

De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A.

Eur J Hum Genet. 2000 May;8(5):325-30.PMID: 10854091 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular diagnosis of Rett syndrome.

Huppke P, Gärtner J.

J Child Neurol. 2005 Sep;20(9):732-6. Review.PMID: 16225827 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

MeCP2 dysfunction in Rett syndrome and related disorders.

Moretti P, Zoghbi HY.

Curr Opin Genet Dev. 2006 Jun;16(3):276-81. Epub 2006 May 2. Review.PMID: 16647848 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F.

Hum Mol Genet. 2000 May 22;9(9):1369-75.PMID: 10814718 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles