These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 7789955)

  • 1. Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.
    Schneppenheim R; Thomas KB; Krey S; Budde U; Jessat U; Sutor AH; Zieger B
    Hum Genet; 1995 Jun; 95(6):681-6. PubMed ID: 7789955
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease.
    Gaucher C; Uno H; Yamazaki T; Mashiba H; Mazurier C
    Eur J Haematol; 1998 Aug; 61(2):145-8. PubMed ID: 9714529
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.
    Gaucher C; Diéval J; Mazurier C
    Blood; 1994 Aug; 84(4):1024-30. PubMed ID: 8049421
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains.
    Michiels JJ; Gadisseur A; van der Planken M; Schroyens W; Berneman Z
    Acta Haematol; 2009; 121(2-3):111-8. PubMed ID: 19506357
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease.
    Holmberg L; Karpman D; Isaksson C; Kristoffersson AC; Lethagen S; Schneppenheim R
    Thromb Haemost; 1998 Apr; 79(4):718-22. PubMed ID: 9569179
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families.
    Schneppenheim R; Federici AB; Budde U; Castaman G; Drewke E; Krey S; Mannucci PM; Riesen G; Rodeghiero F; Zieger B; Zimmermann R
    Thromb Haemost; 2000 Jan; 83(1):136-40. PubMed ID: 10669167
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.
    Castaman G; Novella E; Castiglia E; Eikenboom JC; Rodeghiero F
    Thromb Res; 2002 Jan; 105(2):135-8. PubMed ID: 11958803
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.
    Ribba AS; Lavergne JM; Bahnak BR; Derlon A; Piétu G; Meyer D
    Blood; 1991 Oct; 78(7):1738-43. PubMed ID: 1912563
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
    Eikenboom JC; Castaman G; Vos HL; Bertina RM; Rodeghiero F
    Thromb Haemost; 1998 Apr; 79(4):709-17. PubMed ID: 9569178
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
    Murray EW; Giles AR; Lillicrap D
    Am J Hum Genet; 1992 Jan; 50(1):199-207. PubMed ID: 1729889
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
    Wise RJ; Ewenstein BM; Gorlin J; Narins SC; Jesson M; Handin RI
    Hum Genet; 1993 May; 91(4):367-72. PubMed ID: 8500791
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A common VWF exon 28 haplotype in the Turkish population.
    Berber E; Pehlevan F; Akin M; Capan OY; Kavakli K; Çaglayan SH
    Clin Appl Thromb Hemost; 2013 Sep; 19(5):550-6. PubMed ID: 22473027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular genetics of von Willebrand disease.
    Mazurier C; Ribba AS; Gaucher C; Meyer D
    Ann Genet; 1998; 41(1):34-43. PubMed ID: 9599650
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.
    Schneppenheim R; Budde U; Krey S; Drewke E; Bergmann F; Lechler E; Oldenburg J; Schwaab R
    Thromb Haemost; 1996 Oct; 76(4):598-602. PubMed ID: 8903002
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.
    Gaucher C; Hanss M; Dechavanne M; Mazurier C
    Br J Haematol; 1993 Jan; 83(1):94-9. PubMed ID: 8435341
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.