Skip to search formSkip to main contentSkip to account menu

Bernard-Soulier Syndrome

Known as: BSS, Syndrome, Giant Platelet, Syndrome, Bernard-Soulier 
A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results… 
National Institutes of Health

Related topics

Related topics

13 relations
Autosomal recessive inheritanceEpistaxisHemorrhageIn Blood

Narrower (1)

Bernard-Soulier Syndrome, Type B

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2001
2001
A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the…
This study examined the molecular basis of a missense mutation of the platelet glycoprotein (GP) Ibbeta gene in two families. In… 
1999
1999
Variant Bernard‐Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families
Abstract:  Bernard‐Soulier syndrome (BSS), a rare bleeding disorder with macrothrombocytopenia, is caused by a defect of the… 
Highly Cited
1998
Highly Cited
1998
The dark side of alliances:: Lessons from Volvo–Renault
Highly Cited
1994
Highly Cited
1994
Cys209 Ser mutation in the platelet membrane glycoprotein ibα gene is associated with Bernard‐Soulier syndrome
Summary Molecular genetic analysis has been performed on a patient with Bernard‐Soulier syndrome (BSS). The patient had… 
1990
1990
Studies on the megakaryocytes of a patient with the Bernard‐Soulier syndrome
Summary We have used monoclonal antibodies AP‐1 (anti‐GP Ibα), AP‐2 (anti‐GP IIb‐IIIa) and FMC 25 (anti‐GP IX) in… 
Highly Cited
1980
Highly Cited
1980
Binding of radioiodinated human von Willebrand factor to Bernard-Soulier, thrombasthenic and von Willebrand's disease platelets.
1978
1978
Platelets from "giant platelet syndrome (BSS)" are discocytes and normal sized.
A comparison is made between the shape of human platelets obtained from nine normal donors and two BSS donors. Sizes are… 
1977
1977
Molecular defect in platelets from patients with bernard-soulier syndrome.
An IgG antibody isolated from the serum of a patient with the Bernard-Soulier syndrome induced platelet agglutination in the… 
1975
1975
Hereditary giant platelet syndrome. Absence of collagen-induced coagulant activity and deficiency of factor-XI binding to platelets.
The platelets from two related patients with the hereditary giant platelet syndrome were examined. They were larger than normal… 
Highly Cited
1974
Highly Cited
1974
Factor-VIII-related antigen in platelets.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)