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Items: 1 to 20 of 41

1.

Gastrointestinal phenotype of ATR-X syndrome.

Martucciello G, Lombardi L, Savasta S, Gibbons RJ.

Am J Med Genet A. 2006 Jun 1;140(11):1172-6.

PMID:
16688741
2.

Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues.

Garrick D, Sharpe JA, Arkell R, Dobbie L, Smith AJ, Wood WG, Higgs DR, Gibbons RJ.

PLoS Genet. 2006 Apr;2(4):e58. Epub 2006 Apr 21.

4.

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.

Bérubé NG, Mangelsdorf M, Jagla M, Vanderluit J, Garrick D, Gibbons RJ, Higgs DR, Slack RS, Picketts DJ.

J Clin Invest. 2005 Feb;115(2):258-67.

5.

Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation.

Howard MT, Malik N, Anderson CB, Voskuil JL, Atkins JF, Gibbons RJ.

J Med Genet. 2004 Dec;41(12):951-6. No abstract available.

6.

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE.

Eur J Hum Genet. 2005 Feb;13(2):176-83.

7.
8.

A conserved truncated isoform of the ATR-X syndrome protein lacking the SWI/SNF-homology domain.

Garrick D, Samara V, McDowell TL, Smith AJ, Dobbie L, Higgs DR, Gibbons RJ.

Gene. 2004 Feb 4;326:23-34.

PMID:
14729260
9.

The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.

Xue Y, Gibbons R, Yan Z, Yang D, McDowell TL, Sechi S, Qin J, Zhou S, Higgs D, Wang W.

Proc Natl Acad Sci U S A. 2003 Sep 16;100(19):10635-40. Epub 2003 Sep 2.

10.

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF.

Am J Hum Genet. 2002 Jul;71(1):168-73. Epub 2002 May 30.

11.

Molecular-clinical spectrum of the ATR-X syndrome.

Gibbons RJ, Higgs DR.

Am J Med Genet. 2000 Fall;97(3):204-12. Review.

PMID:
11449489
12.

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB.

Am J Med Genet. 2000 Oct 23;94(5):383-5. No abstract available.

PMID:
11050622
13.

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Cardoso C, Lutz Y, Mignon C, Compe E, Depetris D, Mattei MG, Fontes M, Colleaux L.

J Med Genet. 2000 Oct;37(10):746-51.

14.

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

Villard L, Fontès M, Adès LC, Gecz J.

Am J Med Genet. 2000 Mar 6;91(1):83-5. No abstract available.

PMID:
10751095
15.

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.

Gibbons RJ, McDowell TL, Raman S, O'Rourke DM, Garrick D, Ayyub H, Higgs DR.

Nat Genet. 2000 Apr;24(4):368-71.

PMID:
10742099
16.
17.

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

Guerrini R, Shanahan JL, Carrozzo R, Bonanni P, Higgs DR, Gibbons RJ.

Ann Neurol. 2000 Jan;47(1):117-21.

PMID:
10632111
18.

Germline and gonosomal mosaicism in the ATR-X syndrome.

Bachoo S, Gibbons RJ.

Eur J Hum Genet. 1999 Dec;7(8):933-6.

19.

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

McDowell TL, Gibbons RJ, Sutherland H, O'Rourke DM, Bickmore WA, Pombo A, Turley H, Gatter K, Picketts DJ, Buckle VJ, Chapman L, Rhodes D, Higgs DR.

Proc Natl Acad Sci U S A. 1999 Nov 23;96(24):13983-8.

20.

Cloning, expression and chromosome locations of the human DNMT3 gene family.

Xie S, Wang Z, Okano M, Nogami M, Li Y, He WW, Okumura K, Li E.

Gene. 1999 Aug 5;236(1):87-95.

PMID:
10433969

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