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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases; Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD. Westbury SK, et al. Among authors: laffan ma. Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. Blood Adv. 2018. PMID: 30232087 Free PMC article.
Hunting for the mutation in inherited thrombophilia.
Gomez K, Laffan MA. Gomez K, et al. Among authors: laffan ma. Blood Coagul Fibrinolysis. 2004 Mar;15(2):125-7. doi: 10.1097/00001721-200403000-00002. Blood Coagul Fibrinolysis. 2004. PMID: 15090998 Review.
Two novel mutations in severe factor VII deficiency.
Gomez K, Laffan MA, Kemball-Cook G, Pasi J, Layton M, Singer JD, Tuddenham EG, McVey JH. Gomez K, et al. Among authors: laffan ma. Br J Haematol. 2004 Jul;126(1):105-10. doi: 10.1111/j.1365-2141.2004.04997.x. Br J Haematol. 2004. PMID: 15198740 Free article.
A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.
Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH. Ghevaert C, et al. Blood. 2008 Apr 1;111(7):3407-14. doi: 10.1182/blood-2007-09-112615. Epub 2007 Dec 7. Blood. 2008. PMID: 18065693 Free article.
262 results