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Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.
Venceslá A, Corral-Rodríguez MA, Baena M, Cornet M, Domènech M, Baiget M, Fuentes-Prior P, Tizzano EF. Venceslá A, et al. Among authors: domenech m. Blood. 2008 Apr 1;111(7):3468-78. doi: 10.1182/blood-2007-08-108068. Epub 2008 Jan 9. Blood. 2008. PMID: 18184865 Free PMC article.
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin SR, Shen MC, Lillicrap D, Taylor SA, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA 3rd, Ljung RC, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H. Antonarakis SE, et al. Among authors: domenech m. Blood. 1995 Sep 15;86(6):2206-12. Blood. 1995. PMID: 7662970 Free article.
BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.
Campos B, Diez O, Domènech M, Baena M, Pericay C, Balmaña J, del Rio E, Sanz J, Alonso C, Baiget M. Campos B, et al. Among authors: domenech m. Ann Oncol. 2001 Dec;12(12):1699-703. doi: 10.1023/a:1013517313008. Ann Oncol. 2001. PMID: 11843247 Free article.
Hemophilia A or von Willebrand disease?
Batlle J, Blanco-Lopez MJ, Domenech M, Baiget M, Rocha R, Lopez-Fernandez MF. Batlle J, et al. Among authors: domenech m. Ann Hematol. 1994 Dec;69(6):317-9. doi: 10.1007/BF01696562. Ann Hematol. 1994. PMID: 7993941
346 results