What we have learned from inherited platelet disorders

Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models

(2011) A. T. Nurden et al.   BLOOD

Platelets at work in primary hemostasis

(2011) Katleen Broos et al.   BLOOD REVIEWS

Bernard-Soulier syndrome

(2011) M. C. Berndt et al.   HAEMATOLOGICA

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

(2011) P. Noris et al.   HAEMATOLOGICA

Advances in our understanding of the molecular basis of disorders of platelet function

(2011) A. NURDEN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

Platelet disorders in children: A diagnostic approach

(2011) Sara J. Israels et al.   PEDIATRIC BLOOD & CANCER

Platelets, inflammation and tissue regeneration

(2011) Alan Nurden   THROMBOSIS AND HAEMOSTASIS

Inherited platelet disorders: a clinical approach to diagnosis and management

(2011) Kelly Cox et al.   Expert Review of Hematology

Genetic Regulation of Platelet Receptor Expression and Function

(2010) Marlene S. Williams et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

The genetics of normal platelet reactivity

(2010) T. J. Kunicki et al.   BLOOD

Advances in the understanding of MYH9 disorders

(2010) Shinji Kunishima et al.   CURRENT OPINION IN HEMATOLOGY

Calcium-dependent phospholipid scrambling by TMEM16F

(2010) Jun Suzuki et al.   NATURE

Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists

(2010) Andrew D Johnson et al.   NATURE GENETICS

Platelet Formation

(2010) Jonathan N. Thon et al.   SEMINARS IN HEMATOLOGY

Role of Platelets in Atherothrombosis

(2009) Lisa K. Jennings   AMERICAN JOURNAL OF CARDIOLOGY

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene

(2009) A. D. Paterson et al.   BLOOD

New insights into the haemostatic function of platelets

(2009) Andrew H. Wei et al.   BRITISH JOURNAL OF HAEMATOLOGY

MYH9-Related Platelet Disorders

(2009) Karina Althaus et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics