PubMed

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A.

J Med Genet. 2003 May;40(5):380-4. No abstract available. PMID: 12746405 [PubMed - indexed for MEDLINE]Related articlesFree article

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P.

J Med Genet. 2001 Dec;38(12):867-71. No abstract available. PMID: 11768391 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation analysis of the MECP2 gene in patients with Rett syndrome.

Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, Quattrone A, Fiumara A, Barone R, Pavone L, Nisticò R, Mangone L.

Am J Med Genet A. 2003 Mar 1;117A(2):184-7. No abstract available. PMID: 12567420 [PubMed - indexed for MEDLINE]Related articles

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

Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, Nagamitsu S, Iwanaga R, Kimura A, Omori I, Endo S, Mori K, Kondo I.

J Med Genet. 2000 Aug;37(8):608-10. No abstract available. PMID: 10991688 [PubMed - indexed for MEDLINE]Related articlesFree article

[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 [PubMed - indexed for MEDLINE]Related articles

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis.

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

Brain Dev. 2001 Dec;23 Suppl 1:S152-6.PMID: 11738863 [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

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

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.

Evans JC, Archer HL, Whatley SD, Kerr A, Clarke A, Butler R.

Eur J Hum Genet. 2005 Jan;13(1):124-6.PMID: 15367913 [PubMed - indexed for MEDLINE]Related articlesFree article

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M.

Neuropediatrics. 2001 Jun;32(3):162-4.PMID: 11521215 [PubMed - indexed for MEDLINE]Related articles

Review article: breaking new ground with Rett syndrome.

Kerr AM, Ravine D.

J Intellect Disabil Res. 2003 Nov;47(Pt 8):580-7. Review. No abstract available. PMID: 14641805 [PubMed - indexed for MEDLINE]Related articles

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.

Armstrong J, Pineda M, Aibar E, Geán E, Monrós E.

Ann Neurol. 2001 Nov;50(5):692. No abstract available. PMID: 11706982 [PubMed - indexed for MEDLINE]Related articles

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Kammoun F, de Roux N, Boespflug-Tanguy O, Vallée L, Seng R, Tardieu M, Landrieu P.

J Med Genet. 2004 Jun;41(6):e85. No abstract available. PMID: 15173251 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M.

Brain Dev. 2001 Dec;23 Suppl 1:S246-50.PMID: 11738884 [PubMed - indexed for MEDLINE]Related articles

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF.

J Med Genet. 2000 Dec;37(12):E41. No abstract available. PMID: 11106359 [PubMed - indexed for MEDLINE]Related articlesFree article

[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 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Chae JH, Hwang YS, Kim KJ.

J Child Neurol. 2002 Jan;17(1):33-6.PMID: 11913567 [PubMed - indexed for MEDLINE]Related articles

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

Brain Dev. 2001 Dec;23 Suppl 1:S138-43.PMID: 11738860 [PubMed - indexed for MEDLINE]Related articles

Screening for mutations in the MECP2 (Rett syndrome) gene in Gilles de la Tourette syndrome.

Rosa AL, Jankovic J, Ashizawa T.

Arch Neurol. 2003 Apr;60(4):502-3. No abstract available. PMID: 12707062 [PubMed - indexed for MEDLINE]Related articlesFree article