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Results: 14

1.

A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.

Singleton BK, Roxby DJ, Stirling JW, Spring FA, Wilson C, Poole J, Anstee DJ.

Br J Haematol. 2013 Apr;161(1):139-42. doi: 10.1111/bjh.12184. Epub 2012 Dec 24. No abstract available.

PMID:
23278136
[PubMed - indexed for MEDLINE]
2.

Mature erythrocyte membrane homeostasis is compromised by loss of the GATA1-FOG1 interaction.

Hasegawa A, Shimizu R, Mohandas N, Yamamoto M.

Blood. 2012 Mar 15;119(11):2615-23. doi: 10.1182/blood-2011-09-382473. Epub 2012 Jan 25.

PMID:
22279059
[PubMed - indexed for MEDLINE]
Free Article
3.

Distinctive hematological abnormalities in East Asian neonates and children with Down syndrome.

Kim DW, Kim HR, Shin MG, Baek HJ, Kook H, Hwang TJ, Shin JH, Suh SP, Ryang DW.

Int J Lab Hematol. 2011 Aug;33(4):369-77. doi: 10.1111/j.1751-553X.2011.01299.x. Epub 2011 Feb 25.

PMID:
21692995
[PubMed - indexed for MEDLINE]
4.

Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation.

Dührsen U, Kratz CP, Flotho C, Lauenstein T, Bommer M, König E, Brittinger G, Heimpel H.

Ann Hematol. 2011 Mar;90(3):301-6. doi: 10.1007/s00277-010-1088-9. Epub 2010 Oct 5.

PMID:
20922527
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody.

de Waele L, Freson K, Louwette S, Thys C, Wittevrongel C, de Vos R, Debeer A, van Geet C.

Pediatr Res. 2010 Mar;67(3):314-9. doi: 10.1203/PDR.0b013e3181caafd2.

PMID:
19924028
[PubMed - indexed for MEDLINE]
6.

Characterization of megakaryocyte GATA1-interacting proteins: the corepressor ETO2 and GATA1 interact to regulate terminal megakaryocyte maturation.

Hamlett I, Draper J, Strouboulis J, Iborra F, Porcher C, Vyas P.

Blood. 2008 Oct 1;112(7):2738-49. doi: 10.1182/blood-2008-03-146605. Epub 2008 Jul 14.

PMID:
18625887
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications.

Freson K, Peeters K, De Vos R, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C.

Blood. 2008 Feb 15;111(4):1885-93. Epub 2007 Nov 13.

PMID:
18000164
[PubMed - indexed for MEDLINE]
Free Article
8.

Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".

Balduini CL, De Candia E, Savoia A.

Blood. 2007 Oct 1;110(7):2770-1; author reply 2771. No abstract available.

PMID:
17881640
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.

Kratz CP, Niemeyer CM, Karow A, Volz-Fleckenstein M, Schmitt-Gräff A, Strahm B.

Leukemia. 2008 Feb;22(2):432-4. Epub 2007 Aug 23. No abstract available.

PMID:
17713552
[PubMed - indexed for MEDLINE]
10.

Impairment of erythroid and megakaryocytic differentiation by a leukemia-associated and t(9;9)-derived fusion gene product, SET/TAF-Ibeta-CAN/Nup214.

Saito S, Nouno K, Shimizu R, Yamamoto M, Nagata K.

J Cell Physiol. 2008 Feb;214(2):322-33.

PMID:
17620317
[PubMed - indexed for MEDLINE]
11.

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation.

Tubman VN, Levine JE, Campagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ, Fleming MD.

Blood. 2007 Apr 15;109(8):3297-9. Epub 2007 Jan 5.

PMID:
17209061
[PubMed - indexed for MEDLINE]
Free Article
12.

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.

Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP.

Blood. 2007 Mar 15;109(6):2618-21. Epub 2006 Dec 5.

PMID:
17148589
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Transient leukemia (transient myeloproliferative disorder, transient abnormal myelopoiesis) of Down syndrome.

Brink DS.

Adv Anat Pathol. 2006 Sep;13(5):256-62. Review.

PMID:
16998319
[PubMed - indexed for MEDLINE]
14.

Selective impairment of platelet activation to collagen in the absence of GATA1.

Hughan SC, Senis Y, Best D, Thomas A, Frampton J, Vyas P, Watson SP.

Blood. 2005 Jun 1;105(11):4369-76. Epub 2005 Feb 8.

PMID:
15701726
[PubMed - indexed for MEDLINE]
Free Article

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