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5. Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. Culpan D; Goodeve A; Bowen DJ; Standen G; Bidwell J Clin Lab Haematol; 1998 Jun; 20(3):177-8. PubMed ID: 9681234 [TBL] [Abstract][Full Text] [Related]
6. Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA. Wood N; Tyfield L; Bidwell J Hum Mutat; 1993; 2(2):131-7. PubMed ID: 8318990 [TBL] [Abstract][Full Text] [Related]
7. Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method. Inbal A; Englender T; Kornbrot N; Randi AM; Castaman G; Mannucci PM; Sadler JE Blood; 1993 Aug; 82(3):830-6. PubMed ID: 8338947 [TBL] [Abstract][Full Text] [Related]
8. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W). Bowen DJ; Standen GR; Mazurier C; Gaucher C; Cumming A; Keeney S; Bidwell J Thromb Haemost; 1998 Jul; 80(1):32-6. PubMed ID: 9684781 [TBL] [Abstract][Full Text] [Related]
9. Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Eikenboom JC; Ploos van Amstel HK; Reitsma PH; Briët E Thromb Haemost; 1992 Oct; 68(4):448-54. PubMed ID: 1448779 [TBL] [Abstract][Full Text] [Related]
10. Understanding von Willebrand's disease from gene defects to the patients. Zhang Z; Blombäck M; Anvret M J Intern Med Suppl; 1997; 740():115-9. PubMed ID: 9350192 [TBL] [Abstract][Full Text] [Related]
11. Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. Gaucher C; Mercier B; Jorieux S; Oufkir D; Mazurier C Br J Haematol; 1991 Aug; 78(4):506-14. PubMed ID: 1832934 [TBL] [Abstract][Full Text] [Related]
12. New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease. Casaña P; Martínez F; Haya S; Tavares A; Aznar JA Haematologica; 2001 Apr; 86(4):414-9. PubMed ID: 11325649 [TBL] [Abstract][Full Text] [Related]
13. Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology. Belli C; De Brasi C; Larripa I Hum Mutat; 2003 Feb; 21(2):132-7. PubMed ID: 12552560 [TBL] [Abstract][Full Text] [Related]
14. A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. Peerlinck K; Eikenboom JC; Ploos Van Amstel HK; Sangtawesin W; Arnout J; Reitsma PH; Vermylen J; Briët E Br J Haematol; 1992 Mar; 80(3):358-63. PubMed ID: 1581215 [TBL] [Abstract][Full Text] [Related]
15. A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs. Kramer JW; Venta PJ; Klein SR; Cao Y; Schall WD; Yuzbasiyan-Gurkan V Vet Pathol; 2004 May; 41(3):221-8. PubMed ID: 15133170 [TBL] [Abstract][Full Text] [Related]
16. Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio. Gadisseur A; Berneman Z; Schroyens W; Michiels JJ Acta Haematol; 2009; 121(2-3):128-38. PubMed ID: 19506359 [TBL] [Abstract][Full Text] [Related]
18. Optimisation and properties of a UHG for genotyping of hemoglobins S and C. Wood N; Standen G; Old J; Bidwell J Hum Mutat; 1995; 5(2):166-72. PubMed ID: 7749414 [TBL] [Abstract][Full Text] [Related]
19. Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients. Yadegari H; Driesen J; Pavlova A; Biswas A; Hertfelder HJ; Oldenburg J Thromb Haemost; 2012 Oct; 108(4):662-71. PubMed ID: 22871923 [TBL] [Abstract][Full Text] [Related]
20. Diagnosis of subtype 2B von Willebrand disease in a patient with 2A phenotype of plasma von Willebrand factor. Gaucher C; de Romeuf C; Rauïs-Morret M; Corazza F; Fondu P; Mazurier C Thromb Haemost; 1995 Apr; 73(4):610-6. PubMed ID: 7495067 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]