Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 140

Related Citations for PubMed (Select 16266892)

1.

A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome.

Nelson ME, Thurmes PJ, Hoyer JD, Steensma DP.

Haematologica. 2005 Nov;90(11):1463-70.

2.

A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.

Herbaux C, Badens C, Guidez S, Lacoste C, Maboudou P, Rose C.

Hemoglobin. 2012;36(6):581-5. doi: 10.3109/03630269.2012.724040. Epub 2012 Oct 24.

PMID:
23092150
4.

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.

Eur J Haematol. 2006 May;76(5):432-5, 453. Epub 2006 Feb 15.

PMID:
16480427
5.

De novo and acquired forms of alpha thalassemia.

Forget BG.

Curr Hematol Rep. 2006 Mar;5(1):11-4. Review.

PMID:
16537041
6.

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.

Steensma DP, Viprakasit V, Hendrick A, Goff DK, Leach J, Gibbons RJ, Higgs DR.

Blood. 2004 Feb 15;103(4):1518-20. Epub 2003 Oct 23.

7.

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

Wada T, Sakakibara M, Fukushima Y, Saitoh S.

Brain Dev. 2006 Jun;28(5):322-5. Epub 2006 Jan 10.

PMID:
16376512
8.

[X-linked alpha-thalassemia/mental retardation syndrome].

Wada T.

Rinsho Byori. 2009 Apr;57(4):382-90. Review. Japanese.

PMID:
19489441
9.

In vitro characterization of the α-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)].

Qadah T, Finlayson J, Ghassemifar R.

Hemoglobin. 2012;36(1):38-46. doi: 10.3109/03630269.2011.599086. Epub 2011 Oct 3.

PMID:
21967524
10.

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M.

Am J Hum Genet. 1996 Mar;58(3):499-505.

11.

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.

Hum Mutat. 2008 Jun;29(6):796-802. doi: 10.1002/humu.20734.

PMID:
18409179
12.

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.

Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M.

Genomics. 1997 Jul 15;43(2):149-55.

PMID:
9244431
13.

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.

Nat Genet. 2003 Aug;34(4):446-9.

PMID:
12858175
14.

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.

Wada T, Fukushima Y, Saitoh S.

Am J Med Genet A. 2006 Jul 15;140(14):1519-23.

PMID:
16763962
15.

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).

Haas PS, Roy NB, Gibbons RJ, Deville MA, Fisher C, Schwabe M, Bissé E, van Dorsselaer A, Higgs DR, Lübbert M.

Br J Haematol. 2009 Feb;144(4):538-45. doi: 10.1111/j.1365-2141.2008.07505.x.

PMID:
19055664
16.

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.

Hum Mol Genet. 1996 Dec;5(12):1899-907.

17.

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.

Eur J Hum Genet. 2007 Oct;15(10):1094-7. Epub 2007 Jun 20.

18.

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.

Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, Koopman P, Harley VR.

Hum Mol Genet. 2011 Jun 1;20(11):2213-24. doi: 10.1093/hmg/ddr109. Epub 2011 Mar 22. Erratum in: Hum Mol Genet. 2011 Sep 1;20(17):3535.

19.

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K.

Am J Hum Genet. 1996 Jun;58(6):1185-91.

20.

Alpha-thalassaemia.

Bernini LF, Harteveld CL.

Baillieres Clin Haematol. 1998 Mar;11(1):53-90. Review.

PMID:
10872473
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk