A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. [PDF]
PLoS ONE, 2019 Inherited bleeding disorders including abnormalities of platelet number and function rarely occur in a variety of dog breeds, but are probably underdiagnosed.
Fabio Gentilini +8 more
doaj +7 more sources
Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy) [PDF]
Orphanet Journal of Rare Diseases, 2006 Bernard-Soulier syndrome (BSS), also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts ...
Lanza François
doaj +5 more sources
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Platelets, 2018 Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding.
Sarka Pospisilova +2 more
exaly +3 more sources
Establishment of a Bernard-Soulier syndrome model in zebrafish [PDF]
Haematologica, 2021 Platelets play an essential role in thrombosis and hemostasis. Abnormal hemostasis can cause spontaneous or severe post-traumatic bleeding. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder caused by a complete quantitative deficiency
Qing Lin +9 more
doaj +5 more sources
Bernard–Soulier syndrome and anesthetic management
MRIMS Journal of Health Sciences, 2020 Bernard–Soulier syndrome (BSS) is a rare autosomal recessive disease with bleeding diathesis due to platelet dysfunction secondary to the absence of the von Willebrand factor receptor on the platelet surface called glycoprotein Ib–V–IX.
Manjula Venkatesh Ramsali +5 more
doaj +2 more sources
A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis [PDF]
Haematologica, 2011 Platelet glycoprotein GPIbα mutations are the basic defect behind Bernard-Soulier syndrome, a rare inherited macrothrombocytopenia characterized by anomalies of the GPIbα, GPIbβ and GPIX subunits of von Willebrand factor receptor.
Silvia Vettore +8 more
doaj +2 more sources
Genetic Abnormalities of Bernard-Soulier Syndrome [PDF]
International Journal of Hematology, 2002 Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. BSS is characterized by giant platelets, thrombocytopenia, and prolonged bleeding time, and the hallmark of this disorder is the absence of
Shinji, Kunishima +2 more
core +10 more sources
Research and Practice in Thrombosis and HaemostasisBackground: Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder caused by deficient platelet glycoprotein Ib-IX-V expression resulting in abnormal bleeding, thrombocytopenia, giant platelets, and reduced platelet aggregation response to ...
Lauren G. Banaszak +3 more
doaj +2 more sources
Hemostatic rescue with rFVIIa in Bernard–Soulier syndrome refractory to HLA-matched platelet transfusion [PDF]
Annals of HematologyWe report the case of a man in his 50’s diagnosed with Bernard-Soulier syndrome (BSS) in childhood who developed refractory gluteal bleeding following a fall accident.
Yusuke Okamoto +6 more
doaj +2 more sources
From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis [PDF]
Thrombosis JournalBleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and ...
Cristina Marrero-Cepeda +6 more
doaj +2 more sources