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Items: 1 to 20 of 201

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.

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.

4.

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
5.

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
6.

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
7.

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
8.

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

Tejada MI.

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

9.
10.

[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.

PMID:
24750837
11.

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
12.

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.

13.

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.

14.

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
16.

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
17.

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.

Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6.

PMID:
21982064
18.

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
19.

Atypical features in MECP2 P152R-associated Rett syndrome.

Sheen V, Valencia IM, Torres AR.

Pediatr Neurol. 2013 Aug;49(2):124-6. doi: 10.1016/j.pediatrneurol.2012.12.037.

PMID:
23859859
20.

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B.

Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19.

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