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2. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. Vidal F; Farssac E; Altisent C; Puig L; Gallardo D Thromb Haemost; 2001 Apr; 85(4):580-3. PubMed ID: 11341489 [TBL] [Abstract][Full Text] [Related]
3. Inversion mutation as a major cause of severe hemophilia A in Italian patients. Mori PG; Caprino D; Bicocchi MP; Valetto A; Bottini F; Aquila M Haematologica; 1997; 82(1):75-6. PubMed ID: 9107090 [TBL] [Abstract][Full Text] [Related]
4. Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report. Benedik-Dolnicar M; Strmecki L; Paschke E; Steglich C; Kranjc O; Komel R Haematologica; 2002 Aug; 87(8):ECR30. PubMed ID: 12161377 [No Abstract] [Full Text] [Related]
5. A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. Xie YG; Zheng H; Leggo J; Scully MF; Lillicrap D Thromb Haemost; 2002 Jan; 87(1):178-9. PubMed ID: 11848452 [No Abstract] [Full Text] [Related]
6. Molecular etiology of factor VIII deficiency in hemophilia A. Antonarakis SE; Kazazian HH; Tuddenham EG Hum Mutat; 1995; 5(1):1-22. PubMed ID: 7728145 [TBL] [Abstract][Full Text] [Related]
7. Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients. Santacroce R; Leccese A; Trunzo R; Lassandro G; Giordano P; Ettorre C; Antoncecchi S; Cantori I; Dragani A; Belvini D; Salviato R; Margaglione M Thromb Res; 2015 May; 135(5):1031-4. PubMed ID: 25628142 [No Abstract] [Full Text] [Related]
8. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Williams IJ; Abuzenadah A; Winship PR; Preston FE; Dolan G; Wright J; Peake IR; Goodeve AC Thromb Haemost; 1998 Apr; 79(4):723-6. PubMed ID: 9569180 [TBL] [Abstract][Full Text] [Related]
9. Molecular genetics and counselling in haemophilia. Peake I Thromb Haemost; 1995 Jul; 74(1):40-4. PubMed ID: 8578494 [TBL] [Abstract][Full Text] [Related]
10. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Hill M; Deam S; Gordon B; Dolan G Haemophilia; 2005 Mar; 11(2):133-41. PubMed ID: 15810915 [TBL] [Abstract][Full Text] [Related]
11. Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts. Maugard C; Tuffery S; Aguilar-Martinez P; Schved JF; Gris JC; Demaille J; Claustres M Hum Mutat; 1998; 11(1):18-22. PubMed ID: 9450898 [No Abstract] [Full Text] [Related]
12. Intron 22 inversions in factor VIII gene in Indian hemophiliacs. Shetty S; Pathare A; Ghosh K; Jijina F; Mohanty D Thromb Haemost; 1998 Apr; 79(4):881. PubMed ID: 9569211 [No Abstract] [Full Text] [Related]
13. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Jayandharan G; Shaji RV; Baidya S; Nair SC; Chandy M; Srivastava A Haemophilia; 2005 Sep; 11(5):481-91. PubMed ID: 16128892 [TBL] [Abstract][Full Text] [Related]
14. [Detection of factor VIII intron 1 inversion in severe haemophilia A]. Liang Y; Yan ZY; Yan M; Hua BL; Xiao B; Zhao YQ; Liu JZ Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):323-5. PubMed ID: 19504449 [TBL] [Abstract][Full Text] [Related]
15. Factor VIII inhibitors in patients with congenital severe haemophilia A and its relation to genotype. Pio SF; Ozelo MC; Dos Santos A; de Carvalho BV; Caram C; Zouain D; Oliveira GC; Rezende SM Haemophilia; 2012 Nov; 18(6):e411-4. PubMed ID: 22888969 [No Abstract] [Full Text] [Related]
16. Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene. Castaman G; Giacomelli SH; Ghiotto R; Boseggia C; Pojani K; Bulo A; Madeo D; Rodeghiero F Haemophilia; 2007 May; 13(3):311-6. PubMed ID: 17498081 [TBL] [Abstract][Full Text] [Related]
17. [Mutation screening of the F VIII gene in 10 hemophilia A families]. LI W; HU X; GAO BD; LI LY; LIAO Y; TANG XM; TANG WL; Lu GX Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):127-32. PubMed ID: 21462120 [TBL] [Abstract][Full Text] [Related]
18. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Cutler JA; Mitchell MJ; Smith MP; Savidge GF Hum Mutat; 2002 Mar; 19(3):274-8. PubMed ID: 11857744 [TBL] [Abstract][Full Text] [Related]
19. Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. Liu ML; Nakaya S; Thompson AR Thromb Haemost; 2002 Feb; 87(2):273-6. PubMed ID: 11858487 [TBL] [Abstract][Full Text] [Related]
20. The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. Fernández-López O; García-Lozano JR; Núñez-Vázquez R; Pérez-Garrido R; Núñez-Roldán A Haematologica; 2005 May; 90(5):707-10. PubMed ID: 15921397 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]