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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Haematologica, 2011 Bernard-Soulier syndrome (BSS) is an inherited, usually autosomal recessive, platelet bleeding abnormality, characterized by a prolonged bleeding time, large platelets and thrombocytopenia.[1][1] In 1975, Nurden and Caen reported that platelets from BSS patients lacked a major surface ...
Michael C. Berndt, Robert K. Andrews
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Bernard-Soulier syndrome: a flow cytometric analysis of membrane GP-Ib expression
The Turkish Journal of Pediatrics, 1996 A case of Bernard-Soulier syndrome in a five-year-old female is presented. The diagnosis was confirmed by flow cytometric analysis of glycoprotein Ib (CD 42b) in addition to the patient's classic laboratory findings such as prolonged bleeding time,
M A Yeşilipek, I Karadoğan, L Undar
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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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Pregnancy Outcome in Bernard-Soulier Syndrome. [PDF]
J Obstet Gynaecol India, 2023 Durai V, Subburaj S, Subbaiah M.
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Successful pregnancy and delivery management in a patient with Bernard Soulier Syndrome. [PDF]
Obstet Med, 2023 Bernard Soulier Syndrome (BSS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of ristocetin-induced platelet aggregation. Clinical findings vary from person to person.
Demirci U +5 more
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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: Presenting As High-grade Fever In A Young Male
Journal of Bahria University Medical and Dental College, 2019 Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation). They may be life-threatening and demand immediate attention.
Syed Parvez Asghar +4 more
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Obstetric and gynecological intervention in women with Bernard-Soulier syndrome: Report of two cases [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2014 Introduction. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder characterized by giant platelets thrombocytopenia e prolonged bleeding timee frequent hemorrhages with considerable morbidity.
Mitrović Mirjana +3 more
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