287 related articles for article (PubMed ID: 7855797)
1. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.
Simsek S; Admiraal LG; Modderman PW; van der Schoot CE; von dem Borne AE
Thromb Haemost; 1994 Sep; 72(3):444-9. PubMed ID: 7855797
[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. A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.
Imai C; Kunishima S; Takachi T; Iwabuchi H; Nemoto T; Imamura M; Uchiyama M
Blood Coagul Fibrinolysis; 2009 Sep; 20(6):470-4. PubMed ID: 19448529
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.
Kanaji T; Okamura T; Kurolwa M; Noda M; Fujimura K; Kuramoto A; Sano M; Nakano S; Niho Y
Thromb Haemost; 1997 Jun; 77(6):1055-61. PubMed ID: 9241731
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
Afrasiabi A; Lecchi A; Artoni A; Karimi M; Ashouri E; Peyvandi F; Mannucci PM
Platelets; 2007 Sep; 18(6):409-13. PubMed ID: 17763149
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
Kunishima S; Sako M; Yamazaki T; Hamaguchi M; Saito H
Eur J Haematol; 2006 Dec; 77(6):501-12. PubMed ID: 16978236
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
Kunishima S; Tomiyama Y; Honda S; Fukunishi M; Hara J; Inoue C; Kamiya T; Saito H
Thromb Haemost; 2000 Jul; 84(1):112-7. PubMed ID: 10928480
[TBL] [Abstract][Full Text] [Related]
14. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
Drouin J; Carson NL; Laneuville O
Am J Hematol; 2005 Jan; 78(1):41-8. PubMed ID: 15609295
[TBL] [Abstract][Full Text] [Related]
15. A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.
Vettore S; Scandellari R; Scapin M; Lombardi AM; Duner E; Randi ML; Fabris F
Platelets; 2008 Aug; 19(5):388-91. PubMed ID: 18791947
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. The platelet glycoprotein Ib-IX complex.
Ruggeri ZM
Prog Hemost Thromb; 1991; 10():35-68. PubMed ID: 1848946
[No 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. Biochemical and molecular basis of Bernard-Soulier syndrome: a review.
de la Salle C; Lanza F; Cazenave JP
Nouv Rev Fr Hematol (1978); 1995; 37(4):215-22. PubMed ID: 8904201
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]