133 related articles for article (PubMed ID: 19773258)
1. Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.
Platè M; Duga S; Baronciani L; La Marca S; Rubini V; Mannucci PM; Federici AB; Asselta R
Haematologica; 2010 Jan; 95(1):172-4. PubMed ID: 19773258
[No Abstract] [Full Text] [Related]
2. Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient.
Kasatkar P; Kulkarni B; Ghosh K; Shetty S
Ann Hematol; 2015 Aug; 94(8):1409-10. PubMed ID: 25869031
[No Abstract] [Full Text] [Related]
3. Gene symbol: VWF. Disease: Von Willebrand disease?
Mueller OT
Hum Genet; 2008 Jun; 123(5):539. PubMed ID: 20960608
[No Abstract] [Full Text] [Related]
4. 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]
5. Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.
Yadegari H; Driesen J; Pavlova A; Biswas A; Ivaskevicius V; Klamroth R; Oldenburg J
Haematologica; 2013 Aug; 98(8):1315-23. PubMed ID: 23539537
[TBL] [Abstract][Full Text] [Related]
6. Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
Casaña P; Martínez F; Haya S; Lorenzo JI; Espinós C; Aznar JA
Br J Haematol; 2000 Nov; 111(2):552-5. PubMed ID: 11122100
[TBL] [Abstract][Full Text] [Related]
7. A 12.3-kb Duplication Within the
Lehner S; Ekhlasi-Hundrieser M; Detering C; Allerkamp H; Pfarrer C; von Depka Prondzinski M
G3 (Bethesda); 2018 Feb; 8(2):577-585. PubMed ID: 29208651
[TBL] [Abstract][Full Text] [Related]
8. Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
Castaman G; Bertoncello K; Bernardi M; Eikenboom JC; Budde U; Rodeghiero F
Am J Hematol; 2007 May; 82(5):376-80. PubMed ID: 17109387
[TBL] [Abstract][Full Text] [Related]
9. Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.
Xie F; Wang X; Cooper DN; Lan F; Fang Y; Cai X; Wang Z; Wang H
Haemophilia; 2007 Sep; 13(5):645-8. PubMed ID: 17880457
[TBL] [Abstract][Full Text] [Related]
10. Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro.
Bowman M; Rimmer E; Houston DS; Israels SJ; James P
Haemophilia; 2018 Mar; 24(2):e57-e59. PubMed ID: 29341351
[No Abstract] [Full Text] [Related]
11. Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.
Cabrera N; Casaña P; Cid AR; Haya S; Moret A; Aznar JA
Ann Hematol; 2009 Mar; 88(3):245-7. PubMed ID: 18712522
[TBL] [Abstract][Full Text] [Related]
12. Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.
Daidone V; Barbon G; Pontara E; Cattini GM; Gallinaro L; Zampese E; Pizzo P; Casonato A
Thromb Haemost; 2014 Dec; 112(6):1159-66. PubMed ID: 25230768
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X).
Lethagen S; Isaksson C; Schaedel C; Holmberg L
Thromb Haemost; 2002 Sep; 88(3):421-6. PubMed ID: 12353070
[TBL] [Abstract][Full Text] [Related]
15. Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development.
Surdhar GK; Enayat MS; Lawson S; Williams MD; Hill FG
Blood; 2001 Jul; 98(1):248-50. PubMed ID: 11439975
[No Abstract] [Full Text] [Related]
16. Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families.
Castaman G; Giacomelli S; Rodeghiero F
Acta Haematol; 2009; 121(2-3):106-10. PubMed ID: 19506356
[TBL] [Abstract][Full Text] [Related]
17. Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A; Hermans C; Berneman Z; Schroyens W; Deckmyn H; Michiels JJ
Acta Haematol; 2009; 121(2-3):71-84. PubMed ID: 19506352
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Montfort M; Chabás A; Vilageliu L; Grinberg D
Blood Cells Mol Dis; 2006; 36(1):46-52. PubMed ID: 16326120
[TBL] [Abstract][Full Text] [Related]
20. von Willebrand disease, type 2B: A diagnosis more elusive than previously thought.
Favaloro EJ
Thromb Haemost; 2008 Mar; 99(3):630-1; author reply 632-3. PubMed ID: 18327414
[No Abstract] [Full Text] [Related]
[Next] [New Search]
