166 related articles for article (PubMed ID: 2378985)
21. Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual.
Peake IR; Liddell MB; Moodie P; Standen G; Mancuso DJ; Tuley EA; Westfield LA; Sorace JM; Sadler JE; Verweij CL
Blood; 1990 Feb; 75(3):654-61. PubMed ID: 2297569
[TBL] [Abstract][Full Text] [Related]
22. Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.
Miller CH; Kelley L; Green D
Am J Hematol; 1998 Aug; 58(4):311-8. PubMed ID: 9692396
[TBL] [Abstract][Full Text] [Related]
23. In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.
Bernardi F; Patracchini P; Gemmati D; Pinotti M; Schwienbacher C; Ballerini G; Marchetti G
Hum Mol Genet; 1993 May; 2(5):545-8. PubMed ID: 8518792
[TBL] [Abstract][Full Text] [Related]
24. A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD.
Siguret V; Lavergne JM; Chérel G; Boyer-Neumann C; Ribba AS; Bahnak BR; Meyer D; Piétu G
Hum Genet; 1994 Feb; 93(2):95-102. PubMed ID: 7906671
[TBL] [Abstract][Full Text] [Related]
25. Genetic heterogeneity of severe von Willebrand disease type III in the German population.
Schneppenheim R; Krey S; Bergmann F; Bock D; Budde U; Lange M; Linde R; Mittler U; Meili E; Mertes G
Hum Genet; 1994 Dec; 94(6):640-52. PubMed ID: 7989040
[TBL] [Abstract][Full Text] [Related]
26. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.
Keeney S; Bowen D; Cumming A; Enayat S; Goodeve A; Hill M;
Haemophilia; 2008 Sep; 14(5):1099-111. PubMed ID: 18637846
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Prenatal determination of a variable number of tandem repeats in intron 40 of the von Willebrand factor gene from maternal peripheral blood using the polymerase chain reaction.
Ni X; Guo J; Xia J; Li L
Hum Hered; 2000; 50(3):201-4. PubMed ID: 10686501
[TBL] [Abstract][Full Text] [Related]
29. Diagnosis of inherited von Willebrand disease: a clinical perspective.
Federici AB
Semin Thromb Hemost; 2006 Sep; 32(6):555-65. PubMed ID: 16977566
[TBL] [Abstract][Full Text] [Related]
30. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.
Kroner PA; Kluessendorf ML; Scott JP; Montgomery RR
Blood; 1992 Apr; 79(8):2048-55. PubMed ID: 1373334
[TBL] [Abstract][Full Text] [Related]
31. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.
Zhang ZP; Lindstedt M; Falk G; Blombäck M; Egberg N; Anvret M
Am J Hum Genet; 1992 Oct; 51(4):850-8. PubMed ID: 1415226
[TBL] [Abstract][Full Text] [Related]
32. A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3.
Schneppenheim R; Castaman G; Federici AB; Kreuz W; Marschalek R; Oldenburg J; Oyen F; Budde U
J Thromb Haemost; 2007 Apr; 5(4):722-8. PubMed ID: 17371490
[TBL] [Abstract][Full Text] [Related]
33. Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.
Ginsburg D; Konkle BA; Gill JC; Montgomery RR; Bockenstedt PL; Johnson TA; Yang AY
Proc Natl Acad Sci U S A; 1989 May; 86(10):3723-7. PubMed ID: 2786201
[TBL] [Abstract][Full Text] [Related]
34. Mutations in von Willebrand factor multimerization domains are not a common cause of classical type 1 von Willebrand disease.
Keeney S; Cumming A; Hay C
Thromb Haemost; 1999 Nov; 82(5):1446-50. PubMed ID: 10595636
[TBL] [Abstract][Full Text] [Related]
35. Genetic linkage of two intragenic restriction fragment length polymorphisms with von Willebrand's disease type IIA. Evidence for a defect in the von Willebrand factor gene.
Verweij CL; Quadt R; Briët E; Dubbeldam K; van Ommen GB; Pannekoek H
J Clin Invest; 1988 Apr; 81(4):1116-21. PubMed ID: 2895123
[TBL] [Abstract][Full Text] [Related]
36. Rapid neonatal diagnosis of type IIB von Willebrand disease using the polymerase chain reaction.
Mannhalter C; Kyrle PA; Brenner B; Lechner K
Blood; 1991 Jun; 77(11):2539-40. PubMed ID: 1674891
[No Abstract] [Full Text] [Related]
37. New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami.
Ledford MR; Rabinowitz I; Sadler JE; Kent JW; Civantos F
Blood; 1993 Jul; 82(1):169-75. PubMed ID: 8324222
[TBL] [Abstract][Full Text] [Related]
38. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.
Cumming A; Grundy P; Keeney S; Lester W; Enayat S; Guilliatt A; Bowen D; Pasi J; Keeling D; Hill F; Bolton-Maggs PH; Hay C; Collins P;
Thromb Haemost; 2006 Nov; 96(5):630-41. PubMed ID: 17080221
[TBL] [Abstract][Full Text] [Related]
39. Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.
Haberichter SL; Balistreri M; Christopherson P; Morateck P; Gavazova S; Bellissimo DB; Manco-Johnson MJ; Gill JC; Montgomery RR
Blood; 2006 Nov; 108(10):3344-51. PubMed ID: 16835381
[TBL] [Abstract][Full Text] [Related]
40. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
Schneppenheim R; Budde U; Obser T; Brassard J; Mainusch K; Ruggeri ZM; Schneppenheim S; Schwaab R; Oldenburg J
Blood; 2001 Apr; 97(7):2059-66. PubMed ID: 11264172
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
