192 related articles for article (PubMed ID: 7949089)
1. Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX.
Kunishima S; Miura H; Fukutani H; Yoshida H; Osumi K; Kobayashi S; Ohno R; Naoe T
Blood; 1994 Nov; 84(10):3356-62. PubMed ID: 7949089
[TBL] [Abstract][Full Text] [Related]
2. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome.
Kenny D; Newman PJ; Morateck PA; Montgomery RR
Blood; 1997 Oct; 90(7):2626-33. PubMed ID: 9326229
[TBL] [Abstract][Full Text] [Related]
3. Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
Clemetson JM; Kyrle PA; Brenner B; Clemetson KJ
Blood; 1994 Aug; 84(4):1124-31. PubMed ID: 8049428
[TBL] [Abstract][Full Text] [Related]
4. Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
Moran N; Morateck PA; Deering A; Ryan M; Montgomery RR; Fitzgerald DJ; Kenny D
Blood; 2000 Jul; 96(2):532-9. PubMed ID: 10887115
[TBL] [Abstract][Full Text] [Related]
5. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.
Wright SD; Michaelides K; Johnson DJ; West NC; Tuddenham EG
Blood; 1993 May; 81(9):2339-47. PubMed ID: 8481514
[TBL] [Abstract][Full Text] [Related]
6. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
Miller JL; Lyle VA; Cunningham D
Blood; 1992 Jan; 79(2):439-46. PubMed ID: 1730088
[TBL] [Abstract][Full Text] [Related]
7. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities.
Noda M; Fujimura K; Takafuta T; Shimomura T; Fujimoto T; Yamamoto N; Tanoue K; Arai M; Suehiro A; Kakishita E
Thromb Haemost; 1995 Dec; 74(6):1411-5. PubMed ID: 8772211
[TBL] [Abstract][Full Text] [Related]
8. A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome.
Noda M; Fujimura K; Takafuta T; Shimomura T; Fujii T; Katsutani S; Fujimoto T; Kuramoto A; Yamazaki T; Mochizuki T; Matsuzaki M; Sano M
Thromb Haemost; 1996 Dec; 76(6):874-8. PubMed ID: 8972003
[TBL] [Abstract][Full Text] [Related]
9. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).
de la Salle C; Baas MJ; Lanza F; Schwartz A; Hanau D; Chevalier J; Gachet C; Briquel ME; Cazenave JP
Br J Haematol; 1995 Feb; 89(2):386-96. PubMed ID: 7873390
[TBL] [Abstract][Full Text] [Related]
10. Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.
Ware J; Russell SR; Vicente V; Scharf RE; Tomer A; McMillan R; Ruggeri ZM
Proc Natl Acad Sci U S A; 1990 Mar; 87(5):2026-30. PubMed ID: 2308962
[TBL] [Abstract][Full Text] [Related]
11. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
Noris P; Simsek S; Stibbe J; von dem Borne AE
Br J Haematol; 1997 May; 97(2):312-20. PubMed ID: 9163595
[TBL] [Abstract][Full Text] [Related]
12. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.
Li C; Martin SE; Roth GJ
Blood; 1995 Nov; 86(10):3805-14. PubMed ID: 7579348
[TBL] [Abstract][Full Text] [Related]
13. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome.
Vanhoorelbeke K; Schlammadinger A; Delville JP; Handsaeme J; Vandecasteele G; Vauterin S; Pradier O; Wijns W; Deckmyn H
Platelets; 2001 Mar; 12(2):114-20. PubMed ID: 11297032
[TBL] [Abstract][Full Text] [Related]
14. Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain.
Holmberg L; Karpman D; Nilsson I; Olofsson T
Br J Haematol; 1997 Jul; 98(1):57-63. PubMed ID: 9233564
[TBL] [Abstract][Full Text] [Related]
15. Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.
Simsek S; Noris P; Lozano M; Pico M; von dem Borne AE; Ribera A; Gallardo D
Br J Haematol; 1994 Dec; 88(4):839-44. PubMed ID: 7819107
[TBL] [Abstract][Full Text] [Related]
16. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
Kunishima S; Matsushita T; Ito T; Kamiya T; Saito H
Am J Hematol; 2002 Dec; 71(4):279-84. PubMed ID: 12447957
[TBL] [Abstract][Full Text] [Related]
17. First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.
Dağistan N; Kunishima S
Acta Haematol; 2007; 118(3):146-8. PubMed ID: 17804902
[TBL] [Abstract][Full Text] [Related]
18. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.
Kunishima S; Naoe T; Kamiya T; Saito H
Am J Hematol; 2001 Dec; 68(4):249-55. PubMed ID: 11754414
[TBL] [Abstract][Full Text] [Related]
19. Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain.
Afshar-Kharghan V; López JA
Blood; 1997 Oct; 90(7):2634-43. PubMed ID: 9326230
[TBL] [Abstract][Full Text] [Related]
20. Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.
Takata Y; Kanaji T; Moroi M; Seki R; Sano M; Nakazato S; Sueoka E; Imamura Y; Okamura T
Int J Hematol; 2012 Dec; 96(6):733-42. PubMed ID: 23143686
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
