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Items: 1 to 20 of 147

1.

[Rett syndrome].

van Urk PR, van den Berg MP, van Royen BJ, Smeets EE, Curfs LM.

Ned Tijdschr Geneeskd. 2014;158(3):A6686. Dutch.

PMID:
24423488
2.

[Rett syndrome: clinical and molecular aspects].

Záhoráková D, Zeman J, Martásek P.

Cas Lek Cesk. 2007;146(8):647-52. Review. Czech.

PMID:
17874730
3.
4.

Rett syndrome: clinical and molecular characterization of two Brazilian patients.

Stachon A, Assumpção FB Jr, Raskin S.

Arq Neuropsiquiatr. 2007 Mar;65(1):36-40.

5.

Trisomy 21 and Rett syndrome: a double burden.

Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J.

J Paediatr Child Health. 2004 Jul;40(7):406-9.

PMID:
15228575
6.

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Das DK, Udani V, Sanghavi D, Adhia R, Maitra A.

J Clin Lab Anal. 2013 Mar;27(2):137-42. doi: 10.1002/jcla.21574. Epub 2013 Feb 11.

PMID:
23400946
7.

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
8.

The diagnosis of autism in a female: could it be Rett syndrome?

Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H.

Eur J Pediatr. 2008 Jun;167(6):661-9. Epub 2007 Aug 8.

PMID:
17684768
9.

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
10.

[Rett syndrome: a diagnostic, clinical and molecular update].

Tejada MI.

Rev Neurol. 2006 Jan 7;42 Suppl 1:S55-9. Review. Spanish.

11.
12.

[Clinical features and MECP2 mutations in children with Rett syndrome].

Zhao PW, He XL, Lin J, Wu GF, Yue X, Bi B, Hu JS, Liu ZS.

Zhongguo Dang Dai Er Ke Za Zhi. 2014 Apr;16(4):393-6. Chinese.

13.

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A.

Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10.

PMID:
19362436
14.

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
15.

MECP2 mutations in Malaysian Rett syndrome patients.

Fong CB, Thong MK, Sam CK, Mohamed Noor MN, Ariffin R.

Singapore Med J. 2009 May;50(5):529-33.

16.

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.

17.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H.

Am J Med Genet A. 2015 Feb;167A(2):354-62. doi: 10.1002/ajmg.a.36871. Epub 2014 Nov 26.

PMID:
25428820
19.

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.

J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2.

PMID:
19578037
20.

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Das DK, Raha S, Sanghavi D, Maitra A, Udani V.

Gene. 2013 Feb 15;515(1):78-83. doi: 10.1016/j.gene.2012.11.024. Epub 2012 Dec 20.

PMID:
23262346
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