Associated Papers
Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test.
Perez Botero J et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
Molecular pathology of Bernard-Soulier syndrome in Indian patients.
Ali S et al.
Platelets, 2013
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Noris P et al.
Haematologica, 2012
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.
HadjKacem B et al.
Annals of Hematology, 2010
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.
Balduini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).
Lanza F
Orphanet Journal of Rare Diseases, 2006
Genetic abnormalities of Bernard-Soulier syndrome.
Kunishima S et al.
International Journal of Hematology, 2002
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.
Savoia A et al.
Blood, 2001
Mutation in the leucine-rich repeat of platelet glycoprotein Ib alpha results in defects in its interaction with immobilized von Willebrand factor under flow.
Dong J et al.
Chinese Medical Journal, 2000
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.
Ware J et al.
The Journal of Clinical Investigation, 1993
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