Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

(2014) Martina E. Daly et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hermansky-Pudlak syndrome

(2014) I. Sánchez-Guiu et al.   Hamostaseologie

Spectrum of the Mutations in Bernard-Soulier Syndrome

(2014) Anna Savoia et al.   HUMAN MUTATION

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey

(2014) P. Gresele et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Evaluation of a whole blood remote platelet function test for the diagnosis of mild bleeding disorders

(2014) N. Dovlatova et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

(2014) Béatrice Saposnik et al.   Molecular Genetics & Genomic Medicine

RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses

(2013) M. Rubio-Camarillo et al.   BIOINFORMATICS

Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype

(2013) Isabel Sánchez-Guiu et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Inherited Platelet Function Disorders

(2013) A. Koneti Rao   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

They're not your daddy's inherited platelet disorders anymore

(2013) M. P. Lambert et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Glanzmann Thrombasthenia: State of the Art and Future Directions

(2013) Xavier Pillois et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Platelet-Type von Willebrand Disease: New Insights into the Molecular Pathophysiology of a Unique Platelet Defect

(2013) Harmanpreet Kaur et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Bernard-Soulier Syndrome: An Update

(2013) Robert Andrews et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

(2012) B. B. Dawood et al.   BLOOD

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

(2012) A. C. GLEMBOTSKY et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

Guidelines for the laboratory investigation of heritable disorders of platelet function

(2011) Paul Harrison et al.   BRITISH JOURNAL OF HAEMATOLOGY

Influencia de los polimorfismos de CYP2C19 en la reactividad plaquetaria y el pronóstico en una población no seleccionada de pacientes con síndrome coronario agudo sin elevación del ST

(2011) Antonio Tello-Montoliu et al.   REVISTA ESPANOLA DE CARDIOLOGIA

What To Do When You Suspect an Inherited Platelet Disorder

(2011) M. P. Lambert   Hematology-American Society of Hematology Education Program

Novel mutations in the HPS1 gene among Puerto Rican patients

(2010) C Carmona-Rivera et al.   CLINICAL GENETICS

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

(2010) A. Savoia et al.   HAEMATOLOGICA

Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays

(2009) Teresa Quiroga et al.   BRITISH JOURNAL OF HAEMATOLOGY

αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects onITGA2BandITGB3mRNA splicing, expression, and structure-function

(2009) Vincent Jallu et al.   HUMAN MUTATION

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia

(2009) M. KANNAN et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: a report from the platelet physiology subcommittee of the SSC of the ISTH

(2009) M. CATTANEO et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

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

Platelet function testing: practice among UK National External Quality Assessment Scheme for Blood Coagulation participants, 2006

(2008) I Jennings et al.   JOURNAL OF CLINICAL PATHOLOGY

Laboratory Assessment of Familial, Nonthrombocytopenic Mucocutaneous Bleeding: A Definitive Diagnosis Is Often Not Possible

(2008) Jaime Pereira et al.   SEMINARS IN THROMBOSIS AND HEMOSTASIS