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Items: 1 to 20 of 79

1.

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.

Todorov T, Todorova A, Motoescu C, Dimova P, Iancu D, Craiu D, Stoian D, Barbarii L, Bojinova V, Mitev V.

Mutat Res. 2012 Jun 1;734(1-2):69-72. doi: 10.1016/j.mrfmmm.2012.04.001. Epub 2012 Apr 16.

PMID:
22525432
2.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

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

PMID:
11738860
3.

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
4.

[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

Li MR, Pan H, Bao XH, Zhu XW, Cao GN, Zhang YZ, Wu XR.

Zhonghua Yi Xue Za Zhi. 2009 Feb 3;89(4):224-9. Chinese.

PMID:
19552836
5.

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

Li MR, Pan H, Bao XH, Zhang YZ, Wu XR.

J Hum Genet. 2007;52(1):38-47. Epub 2006 Nov 7.

PMID:
17089071
6.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J.

Eur J Hum Genet. 2007 Dec;15(12):1218-29. Epub 2007 Aug 22.

7.

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
8.

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
9.

Novel double deletions in the MECP2 gene in Tunisian Rett patient.

Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F.

Gene. 2012 Jul 10;502(2):163-7. doi: 10.1016/j.gene.2012.04.028. Epub 2012 Apr 25.

PMID:
22561697
10.

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.

Eur J Med Genet. 2006 Jan-Feb;49(1):9-18.

PMID:
16473305
11.

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.

12.

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
13.

Large genomic rearrangements in MECP2.

Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M.

Hum Mutat. 2005 Mar;25(3):324.

PMID:
15712379
14.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.

Laccone F, Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D.

Hum Mutat. 2004 Mar;23(3):234-44. Erratum in: Hum Mutat. 2004 Apr;23(4):395.

PMID:
14974082
15.

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P.

J Hum Genet. 2007;52(4):342-8. Epub 2007 Feb 15.

PMID:
17387578
16.

A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome.

Lee EY, Chung HJ, Ki CS, Yoo JH, Choi JR.

Ann Clin Lab Sci. 2011 Fall;41(1):93-6.

PMID:
21325263
17.

[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].

Zhang JJ, Bao XH, Cao GN, Jiang SL, Zhu XW, Lu HM, Jia LF, Pan H, Wu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):121-4. doi: 10.3760/cma.j.issn.1003-9406.2010.02.001. Chinese.

PMID:
20376788
18.

Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.

Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F.

J Child Neurol. 2012 May;27(5):564-8. doi: 10.1177/0883073811420496. Epub 2011 Sep 22.

PMID:
21940684
19.

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G.

Clin Genet. 2006 Apr;69(4):319-26.

PMID:
16630165
20.

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.

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