Fibrin-dependent platelet procoagulant activity requires GPIb receptors and von Willebrand factor, Blood, vol.93, pp.564-570, 1999. ,
Defective vWF-Fibrin-GPIb interaction causes impaired prothrombin consumption in Bernard-Soulier Syndrome [abstract], J Thromb Haemost, p.754, 2003. ,
Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine, Haematologica, vol.88, pp.582-592, 2003. ,
Hematopoietic Stem-Cell Transplantation for the Bernard???Soulier Syndrome, Annals of Internal Medicine, vol.138, issue.1, p.79, 2003. ,
DOI : 10.7326/0003-4819-138-1-200301070-00028
Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura, European Journal of Haematology, vol.92, issue.4, pp.348-355, 2006. ,
DOI : 10.1074/jbc.M401659200
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease, Blood, vol.79, pp.439-446, 1992. ,
Naturally occurring mutations in glycoprotein Ib that result in defective ligand binding and synthesis of a truncated protein, Blood, vol.92, pp.175-183, 1998. ,
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, Blood, vol.86, pp.3805-3814, 1995. ,
Bernard-Soulier syndrome: Common ancestry in two African American families with the GP Ib? Leu129Pro mutation, American Journal of Hematology, vol.62, issue.2, pp.141-148, 2000. ,
DOI : 10.1002/1096-8652(200010)65:2<141::AID-AJH9>3.0.CO;2-H
Molecular characterization of two mutations in platelet glycoprotein (GP) Ib?? in two Finnish Bernard-Soulier syndrome families, European Journal of Haematology, vol.93, issue.suppl, pp.160-168, 1999. ,
DOI : 10.1111/j.1600-0609.1999.tb01739.x
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome., Journal of Clinical Investigation, vol.92, issue.3, pp.1213-1220, 1993. ,
DOI : 10.1172/JCI116692
Compound heterozygosity (554?589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency, Thromb Haemost, vol.81, pp.486-492, 1999. ,
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 ,
Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing ? the Nancy I Bernard-Soulier mutation expressed on CHO cells, Thromb Haemost, vol.84, pp.104-111, 2000. ,
Cys209 Ser mutation in the platelet membrane glycoprotein ib?? gene is associated with Bernard-Soulier syndrome, British Journal of Haematology, vol.81, issue.4, pp.839-844, 1994. ,
DOI : 10.1073/pnas.84.16.5610
Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome, Thromb Haemost, vol.86, pp.1385-1391, 2001. ,
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome., Proceedings of the National Academy of Sciences, vol.87, issue.5, pp.2026-2030, 1990. ,
DOI : 10.1073/pnas.87.5.2026
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, Blood, vol.84, pp.3356-3362, 1994. ,
Bernard-Soulier syndrome Karlstad: Trp 498Stop mutation resulting in a truncated glycoprotein Ibalpha that contains part of the transmembranous domain, British Journal of Haematology, vol.98, issue.1, pp.57-63, 1997. ,
DOI : 10.1046/j.1365-2141.1997.1772993.x
Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion, Thromb Haemost, vol.76, pp.670-674, 1996. ,
Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ibalpha gene, British Journal of Haematology, vol.81, issue.4, pp.919-924, 2000. ,
DOI : 10.1073/pnas.96.23.13336
Cys209 Ser mutation in the platelet membrane glycoprotein ib?? gene is associated with Bernard-Soulier syndrome, British Journal of Haematology, vol.81, issue.4, pp.839-844, 1994. ,
DOI : 10.1073/pnas.84.16.5610
Molecular and genetic analysis of two patients with Bernard-Soulier syndrome ? identification of new mutations in glycoprotein Ib alpha gene, Thromb Haemost, vol.77, pp.1055-1061, 1997. ,
Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities, Thromb Haemost, vol.74, pp.1411-1415, 1995. ,
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, Thromb Haemost, vol.76, pp.874-878, 1996. ,
Severe Bleeding Tendency in a Patient With Bernard-Soulier Syndrome Associated With a Homozygous Single Base Pair Deletion in the Gene Coding for the Human Platelet Glycoprotein Ib??, Journal of Pediatric Hematology/Oncology, vol.20, issue.3, pp.246-251, 1998. ,
DOI : 10.1097/00043426-199805000-00011
Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain, pp.2634-2643, 1997. ,
A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome, pp.2626-2633, 1997. ,
Disruption of the Cys5?Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes, Thromb Haemost, vol.90, pp.456-464, 2003. ,
Novel heterozygous missense mutation in the platelet glycoprotein Ib? gene associated with isolated giant platelet disorder, American Journal of Hematology, vol.96, issue.4, pp.249-255, 2001. ,
DOI : 10.1002/ajh.10000
A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP) Ibbeta ? platelet characterization and transfection studies, Thromb Haemost, vol.88, pp.1026-1032, 2002. ,
A Novel Missense Mutation Shows that GPIb?? Has a Dual Role in Controlling the Processing and Stability of the Platelet GPIb-IX Adhesion Receptor, Biochemistry, vol.42, issue.15, pp.4452-4462, 2003. ,
DOI : 10.1021/bi026213d
Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard- Soulier syndrome, Thromb Haemost, vol.84, pp.112-117, 2000. ,
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, Thromb Haemost, vol.86, pp.1249-1256, 2001. ,
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder, pp.2404-2412, 1997. ,
Mutation in the leucine-rich repeat Cflanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor, Thromb Haemost, vol.92, pp.75-88, 2004. ,
Variant Bernard-Soulier syndrome caused by compound heterozygous mutations in the GPIb beta gene [abstract], Platelets, vol.15, pp.374-375, 2004. ,
Molecular characterization of five different mutations in patients with Bernard- Soulier bleeding disorder. Central role of platelet GPIbb and GPIX in GPIb-IX-V expression [abstract], Thromb Haemost, p.68, 1997. ,
Surface expression of GPIb alpha is dependent on GPIb beta: evidence from a novel mutation causing Bernard-Soulier syndrome, Blood, vol.96, pp.532-539, 2000. ,
Novel nonsense mutation in the platelet glycoprotein Ib? gene associated with Bernard-Soulier syndrome, American Journal of Hematology, vol.107, issue.4, pp.279-284, 2002. ,
DOI : 10.1002/ajh.10230
The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome, Blood, vol.93, pp.2968-2975, 1999. ,
Bernard???Soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib?? gene, Blood Coagulation & Fibrinolysis, vol.14, issue.4, pp.387-394, 2003. ,
DOI : 10.1097/00001721-200306000-00010
A 13 base pair deletion in the GPIb?? gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats, Journal of Thrombosis and Haemostasis, vol.158, issue.9, pp.1663-1665, 2004. ,
DOI : 10.1111/j.1538-7836.2004.00895.x
Synthesis of GPIbbeta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells, Journal of Thrombosis and Haemostasis, vol.92, issue.1, pp.217-228, 2006. ,
DOI : 10.1182/blood-2004-03-0893
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome ,
A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex, British Journal of Haematology, vol.81, issue.1, pp.260-266, 2002. ,
DOI : 10.1042/0264-6021:3580295
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome, British Journal of Haematology, vol.132, issue.1, pp.105-108, 2001. ,
DOI : 10.1073/pnas.96.23.13336
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome, Blood, vol.81, pp.2339-2347, 1993. ,
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV, British Journal of Haematology, vol.86, issue.4, pp.1004-1013, 1998. ,
DOI : 10.1074/jbc.271.36.22076
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX, Blood, vol.84, pp.1124-1131, 1994. ,
Recurrent mutation Asn45 ??? Ser of glycoprotein IX in Bernard-Soulier syndrome, European Journal of Haematology, vol.46, issue.2, pp.178-179, 1996. ,
DOI : 10.1111/j.1600-0609.1996.tb01357.x
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families, European Journal of Haematology, vol.91, issue.Suppl ,
DOI : 10.1111/j.1600-0609.1999.tb01755.x
Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome, Platelets, vol.12, issue.2, pp.114-120, 2001. ,
DOI : 10.1080/09537100020047101
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany, British Journal of Haematology, vol.81, issue.1, pp.127-131, 2003. ,
DOI : 10.1046/j.1365-2141.2003.04554.x
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, American Journal of Hematology, vol.118, issue.1, pp.41-48, 2005. ,
DOI : 10.1002/ajh.20236
Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX ,
Phenotypic Consequence of the Gene Abnormality in the Platelet Glycoprotein IX Gene Observed in a Patient with Bernard-Soulier Syndrome through Mammalian Cell Expression System, Thrombosis Research, vol.95, issue.6, pp.295-302, 1999. ,
DOI : 10.1016/S0049-3848(99)00047-X
Cys97Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome, British Journal of Haematology, vol.81, issue.3, pp.539-545, 1999. ,
DOI : 10.1046/j.1365-2141.1998.01100.x
A novel mutation in the transmembrane region of glycoprotein IX associated with Bernard-Soulier syndrome, Thromb Haemost, vol.92, pp.606-613, 2004. ,
Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin, European Journal of Human Genetics, vol.32, pp.101-108, 2006. ,
DOI : 10.1038/sj.ejhg.5201499
Vulnerable mutation Trp126 ??? stop of glycoprotein IX in Japanese Bernard - Soulier syndrome, European Journal of Haematology, vol.77, issue.4, pp.264-246, 1998. ,
DOI : 10.1111/j.1600-0609.1998.tb01035.x