"Bernard-Soulier Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
| Descriptor ID |
D001606
|
| MeSH Number(s) |
C15.378.100.100.080 C15.378.140.120 C15.378.463.080 C16.320.099.080
|
| Concept/Terms |
Bernard-Soulier Syndrome- Bernard-Soulier Syndrome
- Bernard Soulier Syndrome
- Syndrome, Bernard-Soulier
- Giant Platelet Syndrome
- Platelet Syndromes, Giant
- Syndrome, Giant Platelet
- Syndromes, Giant Platelet
Deficiency of Platelet Glycoprotein 1b- Deficiency of Platelet Glycoprotein 1b
- Von Willebrand Factor Receptor Deficiency
- Platelet Glycoprotein Ib Deficiency
- Platelet Glycoprotein 1b, Deficiency of
- Glycoprotein Ib, Platelet, Deficiency Of
|
Below are MeSH descriptors whose meaning is more general than "Bernard-Soulier Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Bernard-Soulier Syndrome".
This graph shows the total number of publications written about "Bernard-Soulier Syndrome" by people in this website by year, and whether "Bernard-Soulier Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 2000 | 2 | 0 | 2 |
| 2003 | 1 | 0 | 1 |
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Below are the most recent publications written about "Bernard-Soulier Syndrome" by people in Profiles.
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Toren A, Rozenfeld-Granot G, Heath KE, Amariglio N, Rocca B, Crosson J, Epstein CJ, Laghi F, Landolfi R, Carlsson LE, Argraves S, Bizzaro N, Moxey-Mims M, Brok-Simoni F, Martignetti JA, Greinacher A, Rechavi G. MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation. Am J Hematol. 2003 Dec; 74(4):254-62.
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Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, Landolfi R, Brok-Simoni F, Carlsson LE, Rechavi G, Greinacher A. Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. Blood. 2000 Nov 15; 96(10):3447-51.
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Rocca B, Maggiano N, De Cristofaro R, Laghi F, Landolfi R. Another family with IGPS. Am J Clin Pathol. 2000 Nov; 114(5):823-4.
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Ludlow LB, Schick BP, Budarf ML, Driscoll DA, Zackai EH, Cohen A, Konkle BA. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem. 1996 Sep 06; 271(36):22076-80.