Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

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
2.
3.

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.

4.

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
5.

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
6.

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
7.

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
8.

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.

9.

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.

10.

De novo and acquired forms of alpha thalassemia.

Forget BG.

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

PMID:
16537041
11.

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.

Am J Med Genet A. 2006 Oct 15;140(20):2212-5.

PMID:
16955409
12.

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.

13.

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.

Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589.

14.

[Acquired alpha-thalassemia as early sign for myelodysplastic syndrome (refractory anaemia) with secondary haemochromatosis].

Perrin J, Perrot A, Chenot V, Lesesve JF, Guerci A, Marchand-Arvier M, Vigneron C, Lecompte T.

Ann Biol Clin (Paris). 2007 Jul-Aug;65(4):405-9. French.

15.

Acquired haemoglobin H disease.

Alli NA.

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

PMID:
16273735
16.

Alpha thalassaemia-mental retardation, X linked.

Gibbons R.

Orphanet J Rare Dis. 2006 May 4;1:15. Review.

17.

Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.

Al-Nafie AN, Borgio JF, AbdulAzeez S, Al-Suliman AM, Qaw FS, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Ali RA, AlKhalifah MA, Al-Muhanna F, Steinberg MH, Al-Ali AK.

Blood Cells Mol Dis. 2015 Jun;55(1):27-9. doi: 10.1016/j.bcmd.2015.03.008. Epub 2015 Mar 30.

PMID:
25976463
18.

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies.

Steensma DP, Gibbons RJ, Higgs DR.

Blood. 2005 Jan 15;105(2):443-52. Epub 2004 Sep 9. Review.

19.

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

Wada T.

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

PMID:
19489441
20.

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

Supplemental Content

Support Center