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
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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.
Jakub Trizuljak +12 more
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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
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Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome [PDF]
HaematologicaBernard Soulier Syndrome (BSS) is a severe bleeding disorder with moderate to severe thrombocytopenia, giant platelets, and platelet dysfunction, caused by biallelic mutations in GP1BA, GP1BB, or GP9 genes.
Larissa Lordier +20 more
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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
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PB2629: LATE DIAGNOSIS OF TWO ADULT SIBLINGS WITH BERNARD SOULIER SYNDROME (BSS) [PDF]
HemaSphere, 2023 Essam Altowyan +4 more
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Successful management of a retrosternal goiter in a patient with Bernard-Soulier syndrome [PDF]
Polish Journal of Thoracic and Cardiovascular Surgery, 2022 Massine El Hammoumi, El Hassane Kabiri
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A Case of Bernard-Soulier Syndrome Associated with 22q11.2 Deletion Syndrome
Clinical Pediatric Hematology-Oncology, 2023 22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by microdeletions in the long arm of chromosome 22. It is one of the most common chromosomal microdeletion disorders.
Oh Cheol Kwon +5 more
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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
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Establishment of a Bernard-Soulier syndrome model in zebrafish
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
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