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Items: 1 to 20 of 95

1.

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE.

Hum Mutat. 2009 Sep;30(9):E866-79. doi: 10.1002/humu.21073.

2.

[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
3.

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
4.

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C.

Eur J Med Genet. 2006 Jul-Aug;49(4):313-22. Epub 2005 Dec 20.

PMID:
16829352
5.

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27.

PMID:
22213695
6.

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.

7.

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
8.

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
9.

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
10.

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
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.

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Das DK, Mehta B, Menon SR, Raha S, Udani V.

Neuromolecular Med. 2013 Mar;15(1):218-25. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15.

PMID:
23242510
13.

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I.

Eur J Hum Genet. 2015 Feb;23(2):195-201. doi: 10.1038/ejhg.2014.81. Epub 2014 Jun 11.

14.

Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.

Rajaei S, Erlandson A, Kyllerman M, Albage M, Lundstrom I, Karrstedt EL, Hagberg B.

J Child Neurol. 2011 Jan;26(1):65-71. doi: 10.1177/0883073810374125.

PMID:
21212452
15.

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.

Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB.

J Med Genet. 2005 Feb;42(2):e15. No abstract available.

16.

Molecular characteristics of Chinese patients with Rett syndrome.

Zhang X, Bao X, Zhang J, Zhao Y, Cao G, Pan H, Zhang J, Wei L, Wu X.

Eur J Med Genet. 2012 Dec;55(12):677-81. doi: 10.1016/j.ejmg.2012.08.009. Epub 2012 Aug 27.

PMID:
22982301
17.

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.

Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J.

Hum Mol Genet. 2011 Jun 1;20(11):2103-15. doi: 10.1093/hmg/ddr093. Epub 2011 Mar 3.

18.

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
19.

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Vieira JP, Lopes F, Silva-Fernandes A, Sousa MV, Moura S, Sousa S, Costa BM, Barbosa M, Ylstra B, Temudo T, Lourenço T, Maciel P.

Int J Dev Neurosci. 2015 Nov;46:82-7. doi: 10.1016/j.ijdevneu.2015.07.010. Epub 2015 Aug 10.

PMID:
26287660
20.

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J.

Hum Mutat. 2001 Sep;18(3):251-2.

PMID:
11524737

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