275 related articles for article (PubMed ID: 7579348)
1. 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]
2. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion.
Li C; Pasquale DN; Roth GJ
Thromb Haemost; 1996 Nov; 76(5):670-4. PubMed ID: 8950770
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing--the Nancy I Bernard-Soulier mutation expressed on CHO cells.
Ulsemer P; Lanza F; Baas MJ; Schwartz A; Ravanat C; Briquel ME; Cranmer S; Jackson S; Cazenave JP; de la Salle C
Thromb Haemost; 2000 Jul; 84(1):104-11. PubMed ID: 10928479
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene.
Watanabe R; Ishibashi T; Saitoh Y; Shichishima T; Maruyama Y; Enomoto Y; Handa M; Oda A; Ambo H; Murata M; Ikeda Y
Blood Coagul Fibrinolysis; 2003 Jun; 14(4):387-94. PubMed ID: 12945881
[TBL] [Abstract][Full Text] [Related]
11. Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha.
Whisstock JC; Shen Y; López JA; Andrews RK; Berndt MC
Thromb Haemost; 2002 Feb; 87(2):329-33. PubMed ID: 11858495
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.
Koskela S; Partanen J; Salmi TT; Kekomäki R
Eur J Haematol; 1999 Mar; 62(3):160-8. PubMed ID: 10089893
[TBL] [Abstract][Full Text] [Related]
13. Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.
Rosenberg N; Lalezari S; Landau M; Shenkman B; Seligsohn U; Izraeli S
J Thromb Haemost; 2007 Feb; 5(2):378-86. PubMed ID: 17083647
[TBL] [Abstract][Full Text] [Related]
14. Molecular defects in the Bernard-Soulier syndrome: assessment of receptor genes, transcripts and proteins.
Roth GJ
C R Acad Sci III; 1996 Sep; 319(9):819-26. PubMed ID: 8952885
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.
Strassel C; David T; Eckly A; Baas MJ; Moog S; Ravanat C; Trzeciak MC; Vinciguerra C; Cazenave JP; Gachet C; Lanza F
J Thromb Haemost; 2006 Jan; 4(1):217-28. PubMed ID: 16409472
[TBL] [Abstract][Full Text] [Related]
18. Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation.
Antonucci JV; Martin ES; Hulick PJ; Joseph A; Martin SE
Am J Hematol; 2000 Oct; 65(2):141-8. PubMed ID: 10996832
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
