304 related articles for article (PubMed ID: 8772211)
1. 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]
2. 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]
3. 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]
4. 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]
5. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
Hadjkacem B; Elleuch H; Gargouri J; Gargouri A
Ann Hematol; 2009 May; 88(5):465-72. PubMed ID: 18825380
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
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 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]
13. 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]
14. 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]
15. 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]
16. A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.
Strassel C; Pasquet JM; Alessi MC; Juhan-Vague I; Chambost H; Combrié R; Nurden P; Bas MJ; De La Salle C; Cazenave JP; Lanza F; Nurden AT
Biochemistry; 2003 Apr; 42(15):4452-62. PubMed ID: 12693941
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome.
Kenny D; Morateck PA; Gill JC; Montgomery RR
Blood; 1999 May; 93(9):2968-75. PubMed ID: 10216092
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
