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Items: 1 to 20 of 118

1.

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.

Sheikh TI, Mittal K, Willis MJ, Vincent JB.

Orphanet J Rare Dis. 2013 Jul 19;8:108. doi: 10.1186/1750-1172-8-108.

2.

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
3.

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB.

Am J Med Genet A. 2009 May;149A(5):1019-23. doi: 10.1002/ajmg.a.32776.

PMID:
19365833
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.

[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
6.

Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis.

Abuhatzira L, Makedonski K, Galil YP, Gak E, Ben Zeev B, Razin A, Shemer R.

Hum Genet. 2005 Oct;118(1):91-8. Epub 2005 Oct 28.

PMID:
16133181
7.

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Yasui DH, Gonzales ML, Aflatooni JO, Crary FK, Hu DJ, Gavino BJ, Golub MS, Vincent JB, Carolyn Schanen N, Olson CO, Rastegar M, Lasalle JM.

Hum Mol Genet. 2014 May 1;23(9):2447-58. doi: 10.1093/hmg/ddt640. Epub 2013 Dec 18. Erratum in: Hum Mol Genet. 2014 Dec 15;23(24):6695.

8.

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

Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F.

Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13. doi: 10.1089/gtmb.2008.0076.

PMID:
19309283
9.

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
10.

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
11.

Spectrum of MECP2 mutations in Rett syndrome.

Lee SS, Wan M, Francke U.

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

PMID:
11738860
12.

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D.

J Med Genet. 2006 Jun;43(6):470-7. Epub 2005 Sep 9.

13.

[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome].

Zhu HY, Hu YL, Zhu RF, Yang Y, Zhu XY, Wang WJ, Duan HL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):625-9. doi: 10.3760/cma.j.issn.1003-9406.2011.06.006. Chinese.

PMID:
22161092
14.

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
15.

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

Corbani S, Chouery E, Fayyad J, Fawaz A, El Tourjuman O, Badens C, Lacoste C, Delague V, Megarbane A.

J Intellect Disabil Res. 2012 Apr;56(4):415-20. doi: 10.1111/j.1365-2788.2011.01479.x. Epub 2011 Sep 29.

PMID:
21954873
16.

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E.

J Med Genet. 2006 Dec;43(12):e56.

18.

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
19.

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
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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