212 related articles for article (PubMed ID: 26044173)
1. A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.
Shlebak A; Poles A; Manning R; Almuhareb S; De La Funte J; Mitchell M; Lucas G
Acta Haematol; 2015; 134(3):193-8. PubMed ID: 26044173
[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. 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]
4. 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]
5. A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.
Li X; Wang S; Wu J; Wang H; Wang J; Dong X; Zhang N
Acta Haematol; 2020; 143(1):60-64. PubMed ID: 31302646
[TBL] [Abstract][Full Text] [Related]
6. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
Bragadottir G; Birgisdottir ER; Gudmundsdottir BR; Hilmarsdottir B; Vidarsson B; Magnusson MK; Larsen OH; Sorensen B; Ingerslev J; Onundarson PT
Am J Hematol; 2015 Feb; 90(2):149-55. PubMed ID: 25370924
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
Savoia A; Pastore A; De Rocco D; Civaschi E; Di Stazio M; Bottega R; Melazzini F; Bozzi V; Pecci A; Magrin S; Balduini CL; Noris P
Haematologica; 2011 Mar; 96(3):417-23. PubMed ID: 21173099
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.
Yamamoto N; Akamatsu N; Sakuraba H; Matsuno K; Hosoya R; Nogami H; Kasahara K; Mitsuyama S; Arai M
Thromb Res; 2013 Apr; 131(4):e160-7. PubMed ID: 23414566
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. 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]
15. Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.
Koskela S; Javela K; Jouppila J; Juvonen E; Nyblom O; Partanen J; Kekomäki R
Eur J Haematol; 1999 Apr; 62(4):256-64. PubMed ID: 10227459
[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. 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]
18. [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].
Wang Z; Shi J; Han Y
Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):464-6. PubMed ID: 11758225
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
Sumitha E; Jayandharan GR; David S; Jacob RR; Sankari Devi G; Bargavi B; Shenbagapriya S; Nair SC; Abraham A; George B; Viswabandya A; Mathews V; Chandy M; Srivastava A
J Thromb Haemost; 2011 Aug; 9(8):1590-8. PubMed ID: 21699652
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]