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Pierre Boisseau

65

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The homozygous variant p.Gln1311* in exon 28 of VWF is associated with the development of alloantibodies in 3 unrelated patients with type 3 VWD.

2021 Haemophilia
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Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence

2019 Haematologica
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A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia

2019 British Journal of Haematology
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Two novel variants of uncertain significance in GP9 associated with Bernard–Soulier syndrome: Are they true mutations?

2018 Platelets
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ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia

2018 Clinical Genetics
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

2017 American Journal of Human Genetics
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A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

2016 Medicine
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Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): a cross-sectional analysis of the French national registry for thrombotic microangiopathy

2016 The Lancet Haematology
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A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis

2016 Thrombosis and Haemostasis
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Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease

2015 BMC Pregnancy and Childbirth
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