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Items: 1 to 20 of 111

1.

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH.

Blood. 2010 Mar 4;115(9):1815-22. doi: 10.1182/blood-2009-08-239517. Epub 2009 Dec 16.

2.

BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.

Sedgewick AE, Timofeev N, Sebastiani P, So JC, Ma ES, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DH.

Blood Cells Mol Dis. 2008 Nov-Dec;41(3):255-8. doi: 10.1016/j.bcmd.2008.06.007. Epub 2008 Aug 8.

3.

The genetics of hemoglobin A2 regulation in sickle cell anemia.

Griffin PJ, Sebastiani P, Edward H, Baldwin CT, Gladwin MT, Gordeuk VR, Chui DH, Steinberg MH.

Am J Hematol. 2014 Nov;89(11):1019-23. doi: 10.1002/ajh.23811. Epub 2014 Aug 4.

4.

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon.

Wonkam A, Ngo Bitoungui VJ, Vorster AA, Ramesar R, Cooper RS, Tayo B, Lettre G, Ngogang J.

PLoS One. 2014 Mar 25;9(3):e92506. doi: 10.1371/journal.pone.0092506. eCollection 2014.

5.

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.

Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH.

Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11869-74. doi: 10.1073/pnas.0804799105. Epub 2008 Jul 30.

6.

Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.

Ngo D, Bae H, Steinberg MH, Sebastiani P, Solovieff N, Baldwin CT, Melista E, Safaya S, Farrer LA, Al-Suliman AM, Albuali WH, Al Bagshi MH, Naserullah Z, Akinsheye I, Gallagher P, Luo HY, Chui DH, Farrell JJ, Al-Ali AK, Alsultan A.

Blood Cells Mol Dis. 2013 Jun;51(1):22-6. doi: 10.1016/j.bcmd.2012.12.005. Epub 2013 Mar 7.

7.

Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.

Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH.

Am J Hematol. 2008 Mar;83(3):189-95.

8.

Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

Bae HT, Baldwin CT, Sebastiani P, Telen MJ, Ashley-Koch A, Garrett M, Hooper WC, Bean CJ, Debaun MR, Arking DE, Bhatnagar P, Casella JF, Keefer JR, Barron-Casella E, Gordeuk V, Kato GJ, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Hoppe C, Gladwin MT, Zhang Y, Steinberg MH.

Blood. 2012 Aug 30;120(9):1961-2. doi: 10.1182/blood-2012-06-432849. No abstract available.

9.

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR.

J Hum Genet. 2011 Apr;56(4):316-23. doi: 10.1038/jhg.2011.12. Epub 2011 Feb 17.

PMID:
21326311
10.

Extensive admixture in Brazilian sickle cell patients: implications for the mapping of genetic modifiers.

da Silva MC, Zuccherato LW, Lucena FC, Soares-Souza GB, Vieira ZM, Pena SD, Martins ML, Tarazona-Santos E.

Blood. 2011 Oct 20;118(16):4493-5; author reply 4495. doi: 10.1182/blood-2011-06-361915. No abstract available. Erratum in: Blood. 2015 Jul 16;126(3):425.

11.

Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia.

Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH.

Cell Mol Biol (Noisy-le-grand). 2004 Feb;50(1):23-33.

PMID:
15040424
12.

BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.

Sebastiani P, Farrell JJ, Alsultan A, Wang S, Edward HL, Shappell H, Bae H, Milton JN, Baldwin CT, Al-Rubaish AM, Naserullah Z, Al-Muhanna F, Alsuliman A, Patra PK, Farrer LA, Ngo D, Vathipadiekal V, Chui DH, Al-Ali AK, Steinberg MH.

Blood Cells Mol Dis. 2015 Mar;54(3):224-30. doi: 10.1016/j.bcmd.2015.01.001. Epub 2015 Jan 30.

13.

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A.

Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1620-5. doi: 10.1073/pnas.0711566105. Epub 2008 Feb 1.

14.

Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.

Pereira C, Relvas L, Bento C, Abade A, Ribeiro ML, Manco L.

Blood Cells Mol Dis. 2015 Apr;54(4):315-20. doi: 10.1016/j.bcmd.2015.02.001. Epub 2015 Feb 21.

PMID:
25842369
15.

Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models.

Milton JN, Gordeuk VR, Taylor JG 6th, Gladwin MT, Steinberg MH, Sebastiani P.

Circ Cardiovasc Genet. 2014 Apr;7(2):110-5. doi: 10.1161/CIRCGENETICS.113.000387. Epub 2014 Mar 1.

16.

Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia.

Makani J, Menzel S, Nkya S, Cox SE, Drasar E, Soka D, Komba AN, Mgaya J, Rooks H, Vasavda N, Fegan G, Newton CR, Farrall M, Thein SL.

Blood. 2011 Jan 27;117(4):1390-2. doi: 10.1182/blood-2010-08-302703. Epub 2010 Nov 10.

17.

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Menzel S, Garner C, Gut I, Matsuda F, Yamaguchi M, Heath S, Foglio M, Zelenika D, Boland A, Rooks H, Best S, Spector TD, Farrall M, Lathrop M, Thein SL.

Nat Genet. 2007 Oct;39(10):1197-9. Epub 2007 Sep 2.

PMID:
17767159
18.

Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia.

Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer LA.

Clin Genet. 2007 Dec;72(6):497-505. Epub 2007 Sep 25.

PMID:
17894837
19.

Annotated definition of BCL11A and HMIP-2 haplotypes through the analysis of sicilian β-thalassemia patients with high levels of fetal hemoglobin.

Buccheri MA, Spina S, Ruberto C, Lombardo T, Labie D, Ragusa AA.

Hemoglobin. 2013;37(5):423-34. doi: 10.3109/03630269.2013.800823. Epub 2013 Jun 19.

PMID:
23777413
20.

A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.

Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat PA, Sripichai O, Kumasaka N, Takahashi A, Svasti S, Munkongdee T, Mahasirimongkol S, Peerapittayamongkol C, Viprakasit V, Kamatani N, Winichagoon P, Kubo M, Nakamura Y, Fucharoen S.

Hum Genet. 2010 Mar;127(3):303-14. doi: 10.1007/s00439-009-0770-2.

PMID:
20183929
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