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Items: 1 to 20 of 85

1.

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
2.
3.

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 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.

5.

De novo and acquired forms of alpha thalassemia.

Forget BG.

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

PMID:
16537041
6.

Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis.

Herbaux C, Duployez N, Badens C, Poret N, Gardin C, Decamp M, Eclache V, Daliphard S, Murati A, Cony-Makhoul P, Cheze S, Beve B, Lacoste C, Prebet T, Hunault-Berger M, Maloisel F, Renneville A, Figeac M, Stamatoullas-Bastard A, Bastard C, Fenaux P, Preudhomme C, Rose C; GFM (Groupe Francophone des Myelodysplasies).

Am J Hematol. 2015 Aug;90(8):737-8. doi: 10.1002/ajh.24073.

7.

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
8.

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.

9.

Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.

Higgs DR, Garrick D, Anguita E, De Gobbi M, Hughes J, Muers M, Vernimmen D, Lower K, Law M, Argentaro A, Deville MA, Gibbons R.

Ann N Y Acad Sci. 2005;1054:92-102. Review.

PMID:
16339655
10.

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
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.

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N.

Clin Genet. 2006 Jul;70(1):57-62.

PMID:
16813605
13.

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

Borgione E, Sturnio M, Spalletta A, Angela Lo Giudice M, Castiglia L, Galesi O, Ragusa A, Fichera M.

Hum Mutat. 2003 May;21(5):529-34.

PMID:
12673795
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.

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.

PMID:
21427128
16.

Acquired haemoglobin H disease.

Alli NA.

Hematology. 2005 Oct;10(5):413-8. Review.

PMID:
16273735
17.

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
18.

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Gibbons RJ.

Cold Spring Harb Perspect Med. 2012 Oct 1;2(10). pii: a011759. doi: 10.1101/cshperspect.a011759.

19.

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.

20.

ATRX and sex differentiation.

Tang P, Park DJ, Marshall Graves JA, Harley VR.

Trends Endocrinol Metab. 2004 Sep;15(7):339-44. Review.

PMID:
15350606

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