366 related articles for article (PubMed ID: 18825380)
1. 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]
2. 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]
3. 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]
4. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
Kurokawa Y; Ishida F; Kamijo T; Kunishima S; Kenny D; Kitano K; Koike K
Thromb Haemost; 2001 Nov; 86(5):1249-56. PubMed ID: 11816714
[TBL] [Abstract][Full Text] [Related]
5. The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.
HadjKacem B; Elleuch H; Trigui R; Gargouri J; Gargouri AF
Ann Hematol; 2010 Jan; 89(1):75-81. PubMed ID: 19484238
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
Mahfouz RA; Bolz HJ; Otrock ZK; Bergmann C; Muwakkit S
Blood Coagul Fibrinolysis; 2012 Jun; 23(4):335-7. PubMed ID: 22343686
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.
González-Manchón C; Larrucea S; Pastor AL; Butta N; Arias-Salgado EG; Ayuso MS; Parrilla R
Thromb Haemost; 2001 Dec; 86(6):1385-91. PubMed ID: 11776304
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.
Zieger B; Jenny A; Tsakiris DA; Bartsch I; Sandrock K; Schubart C; Schäfer S; Busse A; Wuillemin WA
Hamostaseologie; 2009 May; 29(2):161-7. PubMed ID: 19404517
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. A Novel Mutation in
Barozzi S; Bozzi V; De Rocco D; Giangregorio T; Noris P; Savoia A; Pecci A
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638529
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
