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Items: 19

1.

A gain of function variant in PIEZO1 (E756del) and sickle cell disease.

Rooks H, Brewin J, Gardner K, Chakravorty S, Menzel S, Hannemann A, Gibson J, Rees DC.

Haematologica. 2019 Mar;104(3):e91-e93. doi: 10.3324/haematol.2018.202697. Epub 2018 Sep 20. No abstract available.

2.

A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia.

Adeyemo TA, Ojewunmi OO, Oyetunji IA, Rooks H, Rees DC, Akinsulie AO, Akanmu AS, Thein SL, Menzel S.

PLoS One. 2018 Jun 7;13(6):e0197927. doi: 10.1371/journal.pone.0197927. eCollection 2018.

3.

g(HbF): a genetic model of fetal hemoglobin in sickle cell disease.

Gardner K, Fulford T, Silver N, Rooks H, Angelis N, Allman M, Nkya S, Makani J, Howard J, Kesse-Adu R, Rees DC, Stuart-Smith S, Yeghen T, Awogbade M, Sangeda RZ, Mgaya J, Patel H, Newhouse S, Menzel S, Thein SL.

Blood Adv. 2018 Feb 13;2(3):235-239. doi: 10.1182/bloodadvances.2017009811.

4.

Prehospital hydroxocobalamin for inhalation injury and cyanide toxicity in the United States - analysis of a database and survey of ems providers.

Purvis MV, Rooks H, Young Lee J, Longerich S, Kahn SA.

Ann Burns Fire Disasters. 2017 Jun 30;30(2):126-128.

5.

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.

Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL.

Br J Haematol. 2018 Jan;180(1):160-164. doi: 10.1111/bjh.14294. Epub 2016 Jul 29. No abstract available.

PMID:
27469621
6.

Transfers for Hand Surgery Correlate with Increased Reoperations for Complications.

Rooks HJ, Anthony JR, Sexton KW, Marshall AP, Guillamondegui OD, Ehrenfeld JM, Shack RB, Thayer WP.

Am Surg. 2015 Nov;81(11):1177-81.

PMID:
26672590
7.

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer.

Mtatiro SN, Mgaya J, Singh T, Mariki H, Rooks H, Soka D, Mmbando B, Thein SL, Barrett JC, Makani J, Cox SE, Menzel S.

BMC Med Genet. 2015 Feb 10;16:4. doi: 10.1186/s12881-015-0148-3.

8.

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

Mtatiro SN, Singh T, Rooks H, Mgaya J, Mariki H, Soka D, Mmbando B, Msaki E, Kolder I, Thein SL, Menzel S, Cox SE, Makani J, Barrett JC.

PLoS One. 2014 Nov 5;9(11):e111464. doi: 10.1371/journal.pone.0111464. eCollection 2014.

9.

Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterization.

Shooter C, Rooks H, Thein SL, Clark B.

Hum Mutat. 2015 Jan;36(1):142-50. doi: 10.1002/humu.22707.

PMID:
25331561
10.

Global genetic architecture of an erythroid quantitative trait locus, HMIP-2.

Menzel S, Rooks H, Zelenika D, Mtatiro SN, Gnanakulasekaran A, Drasar E, Cox S, Liu L, Masood M, Silver N, Garner C, Vasavda N, Howard J, Makani J, Adekile A, Pace B, Spector T, Farrall M, Lathrop M, Thein SL.

Ann Hum Genet. 2014 Nov;78(6):434-51. doi: 10.1111/ahg.12077. Epub 2014 Jul 29.

11.

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.

Stadhouders R, Aktuna S, Thongjuea S, Aghajanirefah A, Pourfarzad F, van Ijcken W, Lenhard B, Rooks H, Best S, Menzel S, Grosveld F, Thein SL, Soler E.

J Clin Invest. 2014 Apr;124(4):1699-710. doi: 10.1172/JCI71520. Epub 2014 Mar 10.

12.

Genetic determinants of haemolysis in sickle cell anaemia.

Milton JN, Rooks H, Drasar E, McCabe EL, Baldwin CT, Melista E, Gordeuk VR, Nouraie M, Kato GR, Minniti C, Taylor J, Campbell A, Luchtman-Jones L, Rana S, Castro O, Zhang Y, Thein SL, Sebastiani P, Gladwin MT; Walk-PHAAST Investigators, Steinberg MH.

Br J Haematol. 2013 Apr;161(2):270-8. doi: 10.1111/bjh.12245. Epub 2013 Feb 14. Erratum in: Br J Haematol. 2014 Aug;166(3):468. Br J Haematol. 2014 Aug;166(3):468. Kato, Gregory R [corrected to Kata, Gregory J].

13.

HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.

Menzel S, Garner C, Rooks H, Spector TD, Thein SL.

Br J Haematol. 2013 Jan;160(1):101-5. doi: 10.1111/bjh.12084. Epub 2012 Oct 9.

PMID:
23043469
14.

A novel 506kb deletion causing εγδβ thalassemia.

Rooks H, Clark B, Best S, Rushton P, Oakley M, Thein OS, Cuthbert AC, Britland A, Ruf A, Thein SL.

Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):121-7. doi: 10.1016/j.bcmd.2012.05.010. Epub 2012 Jun 5.

PMID:
22677107
15.

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.

16.

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells.

Wahlberg K, Jiang J, Rooks H, Jawaid K, Matsuda F, Yamaguchi M, Lathrop M, Thein SL, Best S.

Blood. 2009 Aug 6;114(6):1254-62. doi: 10.1182/blood-2009-03-210146. Epub 2009 Jun 15.

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.
19.

Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions.

Rooks H, Bergounioux J, Game L, Close JP, Osborne C, Best S, Senior T, Height S, Thompson R, Hadzic N, Fraser P, Bolton-Maggs P, Thein SL.

Br J Haematol. 2005 Mar;128(5):722-9.

PMID:
15725095

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