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Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).

Lanza F.

Orphanet J Rare Dis. 2006 Nov 16;1:46. Review.PMID: 17109744 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic abnormalities of Bernard-Soulier syndrome.

Kunishima S, Kamiya T, Saito H.

Int J Hematol. 2002 Nov;76(4):319-27. Review.PMID: 12463594 [PubMed - indexed for MEDLINE]Related articles

Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome.

Ware J, Russell S, Ruggeri ZM.

Proc Natl Acad Sci U S A. 2000 Mar 14;97(6):2803-8.PMID: 10706630 [PubMed - indexed for MEDLINE]Related articlesFree article

Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements.

Tomer A, Scharf RE, McMillan R, Ruggeri ZM, Harker LA.

Eur J Haematol. 1994 Apr;52(4):193-200.PMID: 8005229 [PubMed - indexed for MEDLINE]Related articles

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 15;86(10):3805-14.PMID: 7579348 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 8950770 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Sep 30.PMID: 18825380 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2006 Sep 15.PMID: 16978236 [PubMed - indexed for MEDLINE]Related articles

Use of recombinant factor VIIa in the management of severe bleeding episodes in patients with Bernard-Soulier syndrome.

Ozelo MC, Svirin P, Larina L.

Ann Hematol. 2005 Nov;84(12):816-22. Epub 2005 Nov 12.PMID: 16044315 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 8972003 [PubMed - indexed for MEDLINE]Related articles

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 15;96(2):532-9.PMID: 10887115 [PubMed - indexed for MEDLINE]Related articlesFree article

First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.

Dağistan N, Kunishima S.

Acta Haematol. 2007;118(3):146-8. Epub 2007 Sep 5.PMID: 17804902 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 7873390 [PubMed - indexed for MEDLINE]Related articles

Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome.

Strassel C, Nonne C, Eckly A, David T, Leon C, Freund M, Cazenave JP, Gachet C, Lanza F.

Arterioscler Thromb Vasc Biol. 2007 Jan;27(1):241-7. Epub 2006 Nov 9.PMID: 17095718 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.

Kunishima S, Naoe T, Kamiya T, Saito H.

Am J Hematol. 2001 Dec;68(4):249-55.PMID: 11754414 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 17763149 [PubMed - indexed for MEDLINE]Related articles

Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and Do not exhibit a Bernard-Soulier phenotype.

Kahn ML, Diacovo TG, Bainton DF, Lanza F, Trejo J, Coughlin SR.

Blood. 1999 Dec 15;94(12):4112-21.PMID: 10590056 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 10227459 [PubMed - indexed for MEDLINE]Related articles

Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany.

Sachs UJ, Kroll H, Matzdorff AC, Berghöfer H, Löpez JA, Santoso S.

Br J Haematol. 2003 Oct;123(1):127-31.PMID: 14510954 [PubMed - indexed for MEDLINE]Related articles

Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome.

Kanaji T, Russell S, Ware J.

Blood. 2002 Sep 15;100(6):2102-7.PMID: 12200373 [PubMed - indexed for MEDLINE]Related articlesFree article