Gibbons RJ - Search Results

1

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.

Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, Price EM, Gibbons RJ, Eichmeyer J, Jiang R, DuPont B, Martell S, Lewis SM, Robinson WP, O'Driscoll M, Wolf FI, Zwick ME, Rajcan-Separovic E. Qiao Y, et al. Among authors: gibbons rj. Hum Mutat. 2014 Jan;35(1):58-62. doi: 10.1002/humu.22465. Hum Mutat. 2014. PMID: 24130152

2

Mutations in the chromatin-associated protein ATRX.

Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J. Gibbons RJ, et al. Hum Mutat. 2008 Jun;29(6):796-802. doi: 10.1002/humu.20734. Hum Mutat. 2008. PMID: 18409179

3

Functional significance of mutations in the Snf2 domain of ATRX.

Mitson M, Kelley LA, Sternberg MJ, Higgs DR, Gibbons RJ. Mitson M, et al. Among authors: gibbons rj. Hum Mol Genet. 2011 Jul 1;20(13):2603-10. doi: 10.1093/hmg/ddr163. Epub 2011 Apr 19. Hum Mol Genet. 2011. PMID: 21505078

4

Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.

Medina CF, Mazerolle C, Wang Y, Bérubé NG, Coupland S, Gibbons RJ, Wallace VA, Picketts DJ. Medina CF, et al. Among authors: gibbons rj. Hum Mol Genet. 2009 Mar 1;18(5):966-77. doi: 10.1093/hmg/ddn424. Epub 2008 Dec 16. Hum Mol Genet. 2009. PMID: 19088125

5

ATRX and the replication of structured DNA.

Clynes D, Gibbons RJ. Clynes D, et al. Among authors: gibbons rj. Curr Opin Genet Dev. 2013 Jun;23(3):289-94. doi: 10.1016/j.gde.2013.01.005. Epub 2013 Feb 28. Curr Opin Genet Dev. 2013. PMID: 23453691 Review.

6

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ. Picketts DJ, et al. Among authors: gibbons rj. Hum Mol Genet. 1996 Dec;5(12):1899-907. doi: 10.1093/hmg/5.12.1899. Hum Mol Genet. 1996. PMID: 8968741

7

A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.

Costa DB, Fisher CA, Miller KB, Pihan GA, Steensma DP, Gibbons RJ, Higgs DR. Costa DB, et al. Among authors: gibbons rj. Eur J Haematol. 2006 May;76(5):432-5, 453. doi: 10.1111/j.1600-0609.2006.00628.x. Epub 2006 Feb 15. Eur J Haematol. 2006. PMID: 16480427

8

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.

Muers MR, Sharpe JA, Garrick D, Sloane-Stanley J, Nolan PM, Hacker T, Wood WG, Higgs DR, Gibbons RJ. Muers MR, et al. Among authors: gibbons rj. Am J Hum Genet. 2007 Jun;80(6):1138-49. doi: 10.1086/518369. Epub 2007 Apr 25. Am J Hum Genet. 2007. PMID: 17503331 Free PMC article.

9

ATRX dysfunction induces replication defects in primary mouse cells.

Clynes D, Jelinska C, Xella B, Ayyub H, Taylor S, Mitson M, Bachrati CZ, Higgs DR, Gibbons RJ. Clynes D, et al. Among authors: gibbons rj. PLoS One. 2014 Mar 20;9(3):e92915. doi: 10.1371/journal.pone.0092915. eCollection 2014. PLoS One. 2014. PMID: 24651726 Free PMC article.

10

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR. Gibbons RJ, et al. Nat Genet. 2003 Aug;34(4):446-9. doi: 10.1038/ng1213. Nat Genet. 2003. PMID: 12858175

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