Bernard-Soulier syndrome
The syndrome, identified in the year 1948, is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier. Gray platelet syndrome ... "Orphanet: Bernard Soulier syndrome". www.orpha.net. Retrieved 2016-07-17. Richmond, Caroline (10 June 2006). "Jean Bernard". ... Online Mendelian Inheritance in Man (OMIM): GIANT PLATELET SYNDROME - 231200 Pham A, Wang J (2007). "Bernard-Soulier syndrome: ... Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the ...
Glycoprotein Ib-IX-V complex
Bernard Soulier Syndrome is characterized by little or no expression of GPIb-IX on the surface of platelets which in turn has ... Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 1: 46. doi:10.1186/ ... López JA, Andrews RK, Afshar-Kharghan V, Berndt MC (June 1998). "Bernard-Soulier syndrome". Blood. 91 (12): 4397-418. doi: ... November 2011). "Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the ...
Glycoprotein IX
2001). "Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome". Br. J ... 1998). "Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome ... 2000). "Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome". Br. J. Haematol. 107 (3): ... Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ (1994). "Variant Bernard-Soulier syndrome associated with a homozygous mutation ...
GP1BA
Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes ... Kunishima S, Kamiya T, Saito H (November 2002). "Genetic abnormalities of Bernard-Soulier syndrome". International Journal of ... glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease ...
GP1BB
Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant ... Kunishima S, Kamiya T, Saito H (2002). "Genetic abnormalities of Bernard-Soulier syndrome". Int. J. Hematol. 76 (4): 319-27. ... evidence from a novel mutation causing Bernard-Soulier syndrome". Blood. 96 (2): 532-9. doi:10.1182/blood.V96.2.532. PMID ... of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome". J ...
Glanzmann's thrombasthenia
Platelet Coagulation Bernard-Soulier syndrome "Glanzmann thrombasthenia , Genetic and Rare Diseases Information Center (GARD ...
Aquagenic urticaria
"Familial aquagenic urticaria and bernard-soulier syndrome". Dermatology. 212 (1): 96-7. doi:10.1159/000089035. PMID 16319487. ...
Glycoprotein Ib
It is deficient in the Bernard-Soulier syndrome. A gain-of-function mutation causes platelet-type von Willebrand disease. ...
Jean Bernard (physician)
Bernard gave his name to Bernard's syndrome and Bernard-Soulier syndrome. In all, Bernard published 14 textbooks and monographs ... Harousseau, Jean-Luc (July 2006). "[Jean Bernard.]". Bulletin du cancer. 93 (7): 659. PMID 16873073. Bernard, J (December 2000 ... Jean Bernard (26 May 1907 in Paris - 17 April 2006 in Paris) was a French physician and haematologist. He was professor of ... In 1932 Bernard gave the first description of the use of high dosage radiotherapy in the treatment of Hodgkin's disease. ...
Bleeding diathesis
Rare examples are Bernard-Soulier syndrome, Wiskott-Aldrich syndrome and Glanzmann's thrombasthenia. Gene therapy treatments ... Coagulopathy can be caused by thinning of the skin (Cushing's syndrome), such that the skin is weakened and is bruised easily ... Wiskott-Aldrich Syndrome Archived 2010-12-21 at the Wayback Machine The International Patient Organisation for Primary ... Douglas H (April 1949). "Cushing' Syndrome and Thymic Carcinoma". QJM: An International Journal of Medicine. 18 (2): 133-147. ...
Platelet membrane glycoprotein
The deficiency in glycoprotein Ib-IX-V complex synthesis leads to Bernard-Soulier syndrome. Glycoprotein VI is one of the ...
Mean platelet volume
"Paris-Trousseau syndrome". MrLabTest. Retrieved 2022-05-10. Geil GD (7 August 2020). Yaish HM (ed.). "Bernard-Soulier Syndrome ... syndrome Mediterranean macrothrombocytopenia Bernard-Soulier syndrome MYH9-related disorders 21q11 deletion syndrome Chronic ... This may be seen in immune thrombocytopenic purpura (ITP), myeloproliferative diseases and Bernard-Soulier syndrome. It may ... "Wiskott-Aldrich Syndrome". Immune Deficiency Foundation. Retrieved 2019-03-03. "CBC (Complete Blood Count), Blood". www. ...
Giant platelet disorder
"Bernard-Soulier Disease (Giant Platelet Syndrome) Symptoms, Causes, Treatment - What is Bernard-Soulier syndrome? - MedicineNet ... Bernard-Soulier syndrome, velocardiofacial syndrome Caused by calpain defect: Montreal platelet syndrome Caused by alpha ... Giant platelet disorder occurs for inherited diseases like Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin ... such as in Bernard-Soulier syndrome and gray platelet syndrome. People may be diagnosed after prolonged and/or recurring ...
GP5 (gene)
Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder.[ ...
Ristocetin-induced platelet aggregation
S2CID 40676013.{{cite journal}}: CS1 maint: multiple names: authors list (link) Pham A, Wang J. Bernard-Soulier syndrome: an ... and Bernard-Soulier syndrome because it uses patient's live endogenous platelets, whereas ristocetin cofactor assay tests the ... Bernard-Soulier syndrome: hypoactive agglutination occurs (when the ristocetin cofactor assay is used, the agglutination is ...
Von Willebrand disease
Bernard-Soulier syndrome, caused by a deficiency in the VWF receptor, GPIb List of hematologic conditions Purpura "Von ... In cases of suspected acquired von Willebrand syndrome, a mixing study (analysis of patient plasma along with pooled normal ... Beighton P, Beighton G (2012). The Man Behind the Syndrome. Springer Science+Business Media. p. 187. ISBN 978-1447114154. ... Heyde's syndrome). This form of acquired VWD may be more prevalent than is presently thought. In 2003, Vincentelli et al. noted ...
AnnMaria De Mars
Later, he was diagnosed with Bernard-Soulier syndrome, which complicated his pre-existing injuries and he was given a prognosis ...
Von Willebrand factor
von Willebrand disease Bernard-Soulier syndrome GRCh38: Ensembl release 89: ENSG00000110799 - Ensembl, May 2017 GRCm38: Ensembl ... Heyde's syndrome, and possibly hemolytic-uremic syndrome. Increased plasma levels in many cardiovascular, neoplastic, metabolic ... an association known as Heyde's syndrome. In thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS), ... July 2003). "Acquired von Willebrand syndrome in aortic stenosis". The New England Journal of Medicine. 349 (4): 343-349. doi: ...
Soulier
French bishop Bernard-Soulier syndrome Shoemaker (surname) Dictionary of American Family Names. "Soulier Family History", ... Constant Soulier (1897-1933), French pilot Fabrice Soulier (born 1969), French poker player Jean-Pierre Soulier (1755-1812), ... Soulier is a French occupational surname which means "shoemaker", from the Old French soulier meaning "shoe" or "sandal". The ... French musician Jean Pierre Soulier (1915-2003), French physician Léon-Raymond Soulier (1924-2016), ...
Ristocetin
... and Bernard-Soulier syndrome. Platelet agglutination caused by ristocetin can occur only in the presence of von Willebrand ...
Haemophilia C
Fresh Frozen Plasma Bleeding diathesis Bernard-Soulier syndrome Von Willebrand disease Vitamin K deficiency Congenital ... Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of ...
Multiple electrode aggregometry
... as in Bernard-Soulier syndrome (BSS). RISTOtest can be performed in two concentrations; RISTOhigh and RISTOlow. In RISTOhigh, a ...
Coagulation
Bernard-Soulier syndrome (abnormal glycoprotein Ib-IX-V complex), gray platelet syndrome (deficient alpha granules), and delta ... antiphospholipid syndrome, factor V Leiden, and various other genetic deficiencies or variants).[medical citation needed] The ... myelodysplastic syndrome or other bone marrow disorders), destruction by the immune system (immune thrombocytopenic purpura), ... or consumption (e.g., thrombotic thrombocytopenic purpura, hemolytic-uremic syndrome, paroxysmal nocturnal hemoglobinuria, ...
Laurent Degos
Molecular defect in platelets from patients with bernard-soulier syndrome », Blood, 1977 nov; 50(5), p. 899-903 Housset M, ... Jean Bernard Prize from the Fondation pour la recherche médicale (2002). Gagna Prize with Anne Dejean, Brussels (2003). ...
Thrombocytopenia
... with radio-ulnar synostosis ANKRD26 related thrombocytopenia Autosomal dominant thrombocytopenia Bernard-Soulier syndrome ( ... Paris-Trousseau thrombocytopenia/Jacobsen syndrome Sebastian syndrome SLFN14-related thrombocytopenia Stormorken syndrome TRPM7 ... absent radius syndrome Tropomyosin 4-related thrombocytopenia TUBB1-related thrombocytopenia Upshaw-Schulman syndrome Wiskott- ... Hemolytic-uremic syndrome Disseminated intravascular coagulation Paroxysmal nocturnal hemoglobinuria Antiphospholipid syndrome ...
BSS
... the active ingredient in several medications Bernard-Soulier syndrome, a bleeding disorder Bristol stool scale, a medical aid ... Palmer album Brave Saint Saturn, an American Christian rock band Broken Social Scene, a Canadian indie rock band Buraka Som ...
Haemophilia B
... fibrinogen disorders and Bernard-Soulier syndrome Treatment is given intermittently, when there is significant bleeding. It ...
BS
... an academic degree Bernard-Soulier syndrome, a rare autosomal recessive coagulopathy, that is caused a deficiency of ... glycoprotein Ib Bartter syndrome, a rare inherited disease which results in hypokalemia Bachelor of Science, an academic degree ...
List of MeSH codes (C15)
... bernard-soulier syndrome MeSH C15.378.100.425.300 - factor v deficiency MeSH C15.378.100.425.310 - factor vii deficiency MeSH ... bernard-soulier syndrome MeSH C15.378.140.735 - platelet storage pool deficiency MeSH C15.378.140.735.400 - hermanski-pudlak ... bernard-soulier syndrome MeSH C15.378.463.250 - disseminated intravascular coagulation MeSH C15.378.463.300 - factor v ... chediak-higashi syndrome MeSH C15.378.553.774.535 - granulomatous disease, chronic MeSH C15.378.553.774.600 - job's syndrome ...
Platelet
... of adhesion Bernard-Soulier syndrome Disorders of activation Disorders of granule amount or release Hermansky-Pudlak syndrome ... Chemotherapy Babesiosis Dengue fever Onyalai Thrombotic thrombocytopenic purpura HELLP syndrome Hemolytic-uremic syndrome Drug- ... Glanzmann's thrombasthenia Wiskott-Aldrich syndrome Disorders of coagulant activity COAT platelet defect Scott syndrome ... Gray platelet syndrome ADP receptor defect Decreased cyclooxygenase activity Platelet storage pool deficiency Disorders of ...