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About 290 results

ALLMedicine™ Bernard-soulier Syndrome Center

Research & Reviews  145 results

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with ...
https://doi.org/10.1080/09537104.2021.1909716
Platelets Dunstan-Harrison C, Morison IM et. al.

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 ...

A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in...
https://doi.org/10.1097/MBC.0000000000001027
Blood Coagulation & Fibrinolysis : an International Journ... Al-Numair N, Ramzan K et. al.

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 ...

Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia i...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875267
BMJ Case Reports; Vekaria P, Senthamizhselvan K et. al.

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,|

Regulation of platelet numbers and sizes by signaling pathways.
https://doi.org/10.1080/09537104.2020.1841893
Platelets Pawinwongchai J, Mekchay P et. al.

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...

Bleeding phenotype and diagnostic characterization of patients with congenital platelet...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540397
American Journal of Hematology; Blaauwgeers MW, Kruip MJHA et. al.

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...

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Clinicaltrials.gov  145 results

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with ...
https://doi.org/10.1080/09537104.2021.1909716
Platelets Dunstan-Harrison C, Morison IM et. al.

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 ...

A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in...
https://doi.org/10.1097/MBC.0000000000001027
Blood Coagulation & Fibrinolysis : an International Journ... Al-Numair N, Ramzan K et. al.

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 ...

Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia i...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875267
BMJ Case Reports; Vekaria P, Senthamizhselvan K et. al.

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,|

Regulation of platelet numbers and sizes by signaling pathways.
https://doi.org/10.1080/09537104.2020.1841893
Platelets Pawinwongchai J, Mekchay P et. al.

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...

Bleeding phenotype and diagnostic characterization of patients with congenital platelet...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540397
American Journal of Hematology; Blaauwgeers MW, Kruip MJHA et. al.

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...

see more →