ALLMedicine™ Bernard-soulier Syndrome Center

Apr 5th, 2021 - GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia. The variant leads to ...

Mar 3rd, 2021 - Bernard-Soulier syndrome is a rare autosomal recessive bleeding disorder and has a low incidence. Bernard-Soulier syndrome is caused by the deficiency of glycoprotein GPIb-V-IX complex, a receptor for von Willebrand factor and is characterized by ...

Feb 10th, 2021 - Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia in a patient with Bernard-Soulier syndrome.|2021|Vekaria P,Senthamizhselvan K,Gnanasekaran S,Mohan P,|

Nov 23rd, 2020 - Either the glycoprotein (GP) Ib deficiency or hyper-function in humans can cause macrothrombocytopenia, the molecular mechanisms of which remain unclear. Herein, the investigations for disease pathogenesis were performed in the human induced pluri...

Jun 20th, 2020 - Phenotypic characterization of congenital platelet defects (CPDs) could help physicians recognize CPD subtypes and can inform on prognostic implications. We report the analyses of the bleeding phenotype and diagnostic characteristics of a large co...

Apr 5th, 2021 - GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia. The variant leads to ...

Mar 3rd, 2021 - Bernard-Soulier syndrome is a rare autosomal recessive bleeding disorder and has a low incidence. Bernard-Soulier syndrome is caused by the deficiency of glycoprotein GPIb-V-IX complex, a receptor for von Willebrand factor and is characterized by ...

Feb 10th, 2021 - Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia in a patient with Bernard-Soulier syndrome.|2021|Vekaria P,Senthamizhselvan K,Gnanasekaran S,Mohan P,|

Nov 23rd, 2020 - Either the glycoprotein (GP) Ib deficiency or hyper-function in humans can cause macrothrombocytopenia, the molecular mechanisms of which remain unclear. Herein, the investigations for disease pathogenesis were performed in the human induced pluri...

Jun 20th, 2020 - Phenotypic characterization of congenital platelet defects (CPDs) could help physicians recognize CPD subtypes and can inform on prognostic implications. We report the analyses of the bleeding phenotype and diagnostic characteristics of a large co...