| 1 | Quaternary organization of GPIb-IX complex and insigh ts into Bernard-Soulier syndrome revealed by the structures of GPIbI^ and a GPIb I^/GPIX chimera. (21908432) | McEwan P.A.... Emsley J. | 2011 | GP9, GP1BB |
| 2 | Molecular basis of Bernard-Soulier syndrome in 27 pat ients from India. (21699652) | Sumitha E.... Srivastava A. | 2011 | GP9, GP1BA, GP1BB |
| 3 | Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. (19067792) | Balduini A.... Balduini C.L. | 2009 | GP1BA |
| 4 | Flow cytometry as a tool in the diagnosis of Bernard-Soulier syndrome in Brazilian patients. (19459130) | Beltrame M.P.... Pasquini R. | 2009 | GP9 |
| 5 | Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. (18825380) | Hadjkacem B.... Gargouri A. | 2009 | GP9, GP1BB, GP5 |
| 6 | Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant. (18815197) | Vettore S.... Fabris F. | 2008 | GP1BA |
| 7 | A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. (18791947) | Vettore S.... Fabris F. | 2008 | GP1BA |
| 8 | First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S. (17804902) | Dagistan N.... Kunishima S. | 2007 | GP9 |
| 9 | Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran. (17763149) | Afrasiabi A.... Mannucci P.M. | 2007 | GP9, GP1BA |
| 10 | Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome. (17083647) | Rosenberg N.... Izraeli S. | 2007 | GP1BA |
| 11 | Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). (17109744) | Lanza F. | 2006 | GP9, GP1BB, GP5 |
| 12 | A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). (16268478) | Liang H.P.... Ward C.M. | 2005 | GP9, GP1BB |
| 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. (15609295) | Drouin J.... Laneuville O. | 2005 | GP9 |
| 14 | Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864) | Ghosh K.... Mohanty D. | 2005 | F11 |
| 15 | Fibrin polymerization is crucial for thrombin generation in platelet-rich plasma in a VWF-GPIb-dependent process, defective in Bernard-Soulier syndrome. (14717981) | Beguin S.... Hemker H.C. | 2004 | VWF, F2 |
| 16 | Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. (14510954) | Sachs U.J.... Santoso S. | 2003 | GP9, GP1BB |
| 17 | Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome (14575593) | Zhao X.J.... Ruan C.G. | 2003 | GP9 |
| 18 | Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene. (12945881) | Watanabe R.... Ikeda Y. | 2003 | GP9, GP1BB |
| 19 | A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies. (12529755) | Hillmann A.... Kenny D. | 2002 | GP9, GP1BA, GP1BB |
| 20 | A Leu7-to-Pro 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. (12100158) | Lanza F.... Caen J.P. | 2002 | GP9 |
| 21 | Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (12447957) | Kunishima S.... Saito H. | 2002 | GP9, GP1BA, GP1BB |
| 22 | Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome. (11297032) | Vanhoorelbeke K.... Deckmyn H. | 2001 | GP9, GP1BB |
| 23 | 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. (11816714) | Kurokawa Y.... Koike K. | 2001 | GP9, GP1BA, GP1BB |
| 24 | Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome. (11776304) | Gonzalez-Manchon C.... Parrilla R. | 2001 | GP1BA |
| 25 | A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient. (11758225) | Wang Z.... Han Y. | 2001 | GP9 |
| 26 | Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. (11167791) | Rivera C.E.... Rick M.E. | 2001 | GP9 |
| 27 | Bernard-Soulier syndrome: common ancestry in two Afri can American families with the GP Ib alpha Leu129Pro mutation. (10996832) | Antonucci J.V.... Martin S.E. | 2000 | GP1BA, GP1BB |
| 28 | Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. (10928480) | Kunishima S.... Saito H. | 2000 | GP9, GP1BB, GP5 |
| 29 | Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. (10887115) | Moran N.... Kenny D. | 2000 | GP9, GP1BA, GP1BB |
| 30 | Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. (10089893) | Koskela S.... Kekomaki R. | 1999 | GP1BA, GP1BB |
| 31 | 1-Deamino (8-D-arginine) vasopressin infusion partial ly corrects platelet deposition on subendothelium in Bernard-Soulier syndrome: the role of factor VIII. (16801084) | Lozano M.... Caen J.P. | 1999 | F2 |
| 32 | A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. (9886312) | Noris P.... Balduini C.L. | 1998 | GP9, GP1BA |
| 33 | Vulnerable mutation Trp126-->stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (9579882) | Iwanaga M.... Naoe T. | 1998 | GP9 |
| 34 | Bernard-Soulier syndrome. (9616133) | LA^pez J.A.... Berndt M.C. | 1998 | GP5 |
| 35 | Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene. (9241731) | Kanaji T.... Niho Y. | 1997 | GP1BA |
| 36 | Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. (9432024) | Suzuki K.... Sasaki H. | 1997 | GP9 |
| 37 | Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. (8950770) | Li C.... Roth G.J. | 1996 | GP1BA |
| 38 | 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. (8972003) | Noda M.... Sano M. | 1996 | GP9, GP1BB, GP5 |
| 39 | Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. (8703016) | Ludlow L.B.... Konkle B.A. | 1996 | GP9, GP1BB |
| 40 | 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. (7579348) | Li C.... Roth G.J. | 1995 | VWF, GP1BA |
| 41 | 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). (7873390) | de la Salle C.... Cazenave J.-P. | 1995 | GP9, GP1BA, GP1BB |
| 42 | Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements. (8005229) | Tomer A.... Harker L.A. | 1994 | VWF |
| 43 | Partial expression of GP Ib measured by flow cytometry in two patients with Bernard-Soulier syndrome. (7900092) | Bunescu A.... Egberg N. | 1994 | VWF |
| 44 | Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome. (7855797) | Simsek S.... von dem Borne A.E. | 1994 | VWF, GP1BA |
| 45 | Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome. (7819107) | Simsek S.... Gallardo D. | 1994 | GP1BA |
| 46 | Substantial expression of glycoproteins IX and V on the platelet surface from a patient with Bernard-Soulier syndrome. (7947243) | Arai M.... Tanoue K. | 1994 | GP9 |
| 47 | Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. (8049428) | Clemetson J.M.... Clemetson K.J. | 1994 | GP9 |
| 48 | Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. (8481514) | Wright S.D.... Tuddenham E.G. | 1993 | GP9, GP1BB |
| 49 | Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. (7690774) | Ware J.... Ruggeri Z.M. | 1993 | GP1BA |
| 50 | The immunodiagnosis of thrombocyte membrane glycopro tein deficiencies: Glanzmann's thrombasthenia, Bernard-Soulier syndrome and GMP -140 protein deficiency (1284039) | Agafonova O.G.... Mazurov A.V. | 1992 | RECK |
