Associated Papers
Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
Ferrari S et al.
International Journal of Laboratory Hematology, 2026
Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome.
Lordier L et al.
Haematologica, 2025
The Diagnostic Assessment of Platelet Function Defects - Part 2: Update on Platelet Disorders.
Althaus K et al.
Hamostaseologie, 2025
Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Kaya Z
Seminars in Thrombosis and Hemostasis, 2025
Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Zhang S et al.
Hematology (amsterdam, Netherlands), 2024
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Skalníková M et al.
International Journal of Molecular Sciences, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.
Ma J et al.
Experimental and Therapeutic Medicine, 2021
Inherited thrombocytopenias: history, advances and perspectives.
Nurden AT et al.
Haematologica, 2020
A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.
Li X et al.
Acta Haematologica, 2020
A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.
Proulle V et al.
British Journal of Haematology, 2019
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
Gene of the issue: GP1BA gene mutations associated with bleeding.
Othman M et al.
Platelets, 2017
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
Ali S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
[Diagnosis and molecular pathogenesis of congenital thrombocytopenia].
Kunishima S
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2014
Inherited thrombocytopenias frequently diagnosed in adults.
Balduini CL et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.
Necchi V et al.
Thrombosis and Haemostasis, 2013
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.
Glembotsky AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2012