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Items: 1 to 20 of 114

1.

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG.

Neurology. 2008 Apr 15;70(16):1313-21. doi: 10.1212/01.wnl.0000291011.54508.aa. Epub 2008 Mar 12.

2.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

3.
4.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome.

Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H.

Dev Med Child Neurol. 2010 Sep;52(9):817-23. doi: 10.1111/j.1469-8749.2010.03636.x. Epub 2010 Mar 19.

5.

Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.

Bissonnette JM, Schaevitz LR, Knopp SJ, Zhou Z.

Neuroscience. 2014 May 16;267:166-76. doi: 10.1016/j.neuroscience.2014.02.043. Epub 2014 Mar 10.

6.

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A.

J Med Genet. 2007 Feb;44(2):148-52. Epub 2006 Aug 11.

7.

[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
8.

Social impairments in Rett syndrome: characteristics and relationship with clinical severity.

Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, Naidu S.

J Intellect Disabil Res. 2012 Mar;56(3):233-47. doi: 10.1111/j.1365-2788.2011.01404.x. Epub 2011 Mar 8.

PMID:
21385260
9.

MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits.

Schaevitz LR, Gómez NB, Zhen DP, Berger-Sweeney JE.

Genes Brain Behav. 2013 Oct;12(7):732-40. doi: 10.1111/gbb.12070. Epub 2013 Aug 26.

10.

[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].

Kondo I, Yamagata H.

No To Hattatsu. 2002 May;34(3):219-23. Japanese.

PMID:
12030010
11.

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
12.

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
13.

Rett syndrome: North American database.

Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P.

J Child Neurol. 2007 Dec;22(12):1338-41. doi: 10.1177/0883073807308715.

PMID:
18174548
14.

[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].

Li MR, Pan H, Bao XH, Cao GN, Wu XR.

Zhonghua Er Ke Za Zhi. 2007 Aug;45(8):579-82. Chinese.

PMID:
18021529
15.

[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.

16.

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
17.

People with MECP2 mutation-positive Rett disorder who converse.

Kerr AM, Archer HL, Evans JC, Prescott RJ, Gibbon F.

J Intellect Disabil Res. 2006 May;50(Pt 5):386-94.

PMID:
16629931
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.

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
20.

Rett syndrome and long-term disorder profile.

Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP.

Am J Med Genet A. 2009 Feb;149A(2):199-205. doi: 10.1002/ajmg.a.32491.

PMID:
19133691
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