What To Do When You Suspect an Inherited Platelet Disorder

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

(2011) S. Fabbro et al.   BLOOD

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

(2011) P. Noris et al.   BLOOD

Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity

(2011) S. Nagalla et al.   BLOOD

Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome

(2011) E. Castoldi et al.   BLOOD

Platelet-type Von Willebrand disease: Three decades in the life of a rare bleeding disorder

(2011) Maha Othman   BLOOD REVIEWS

Use of autologous platelet-rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders

(2011) P. NURDEN et al.   HAEMOPHILIA

Bleeding tendency and impaired platelet function in a patient carrying a heterozygous mutation in the thromboxane A2receptor

(2011) T. KAMAE et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

Platelet disorders in children: A diagnostic approach

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

Congenital amegakaryocytic thrombocytopenia

(2011) Amy E. Geddis   PEDIATRIC BLOOD & CANCER

Bleeding manifestations of congenital and drug-induced defects of the platelet P2Y12 receptor for adenosine diphosphate

(2011) Marco Cattaneo   THROMBOSIS AND HAEMOSTASIS

Frequency of Platelet type versus Type 2B von Willebrand Disease

(2011) Alexander Hamilton et al.   THROMBOSIS AND HAEMOSTASIS

Development of North American Consensus Guidelines for Medical Laboratories That Perform and Interpret Platelet Function Testing Using Light Transmission Aggregometry

(2010) Catherine P.M. Hayward et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B

(2010) P. Nurden et al.   BLOOD

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

(2010) A. Pecci et al.   BLOOD

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

(2010) M. Gunay-Aygun et al.   BLOOD

F104S c-Mpl responds to a transmembrane domain−binding thrombopoietin receptor agonist: Proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents

(2010) Norma E. Fox et al.   EXPERIMENTAL HEMATOLOGY

Phospholipid scramblase: An update

(2010) Edouard M. Bevers et al.   FEBS LETTERS

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

(2010) A. Savoia et al.   HAEMATOLOGICA

Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding

(2010) S. J. ISRAELS et al.   HAEMOPHILIA

Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: Advances in Biology and Future Directions for Treatment

(2010) Sung-Yun Pai et al.   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Induced pluripotent stem cell–derived human platelets: one step closer to the clinic: Figure 1.

(2010) Christos Gekas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Menorrhagia in Adolescents with Inherited Bleeding Disorders

(2010) Claudia Chi et al.   Journal of Pediatric and Adolescent Gynecology

Use of a quantitative pediatric bleeding questionnaire to assess mucocutaneous bleeding symptoms in children with a platelet function disorder

(2010) T. T. BISS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Treatment and outcomes for epistaxis in children with Glanzmann's thrombasthenia

(2010) R. Raul Rosas et al.   LARYNGOSCOPE

Calcium-dependent phospholipid scrambling by TMEM16F

(2010) Jun Suzuki et al.   NATURE

2B or not to be – The 45-year saga of the Montreal Platelet Syndrome

(2010) Margaret Rand et al.   THROMBOSIS AND HAEMOSTASIS

MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis

(2010) Karina Althaus et al.   TRANSFUSION MEDICINE AND HEMOTHERAPY

A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

(2009) A. D. Mumford et al.   BLOOD

International consensus report on the investigation and management of primary immune thrombocytopenia

(2009) D. Provan et al.   BLOOD

Glanzmann thrombasthenia: An update

(2009) Massimo Franchini et al.   CLINICA CHIMICA ACTA

Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature

(2009) Norma E. Fox et al.   EXPERIMENTAL HEMATOLOGY

Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene

(2009) P. Nurden et al.   HAEMATOLOGICA

Congenital Amegakaryocytic Thrombocytopenia and Thrombocytopenia with Absent Radii

(2009) Amy E. Geddis   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: Report of two cases and review of the literature

(2009) Haydar Frangoul et al.   PEDIATRIC TRANSPLANTATION

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy

(2008) C. J. Owen et al.   BLOOD

Novel point mutation in a leucine-rich repeat of the GPIb  chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

(2008) S. Vettore et al.   HAEMATOLOGICA

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

(2008) David Geneviève et al.   NATURE GENETICS