(Q38183490)

30 August 2017

title

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

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30 August 2017

4

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30 August 2017

5

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30 August 2017

Martina E Daly

1

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30 August 2017

Vincenzo C Leo

series ordinal

2

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30 August 2017

Gillian C Lowe

series ordinal

3

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30 August 2017

language of work or name

English

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publication date

30 January 2014

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British Journal of Haematology

30 August 2017

published in

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30 August 2017

volume

165

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30 August 2017

issue

2

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30 August 2017

page(s)

193-203

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

30 August 2017

cites work

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Inherited thrombocytopenias frequently diagnosed in adults

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

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Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

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Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients

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

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Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments

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Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

21 January 2018

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A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

21 January 2018

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Identification of the platelet ADP receptor targeted by antithrombotic drugs

21 January 2018

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Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome.

21 January 2018

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

21 January 2018

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

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Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions

21 January 2018

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ACTN1 mutations cause congenital macrothrombocytopenia

21 January 2018

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

21 January 2018

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Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders.

21 January 2018

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The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

21 January 2018

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An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families

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21 January 2018

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An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets.

21 January 2018

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

21 January 2018

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21 January 2018

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The adhesiveness of native platelets and its prevention

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Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

21 January 2018

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21 January 2018

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21 January 2018

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Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia

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A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia

21 January 2018

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

21 January 2018

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

21 January 2018

1 reference

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

21 January 2018

1 reference

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

21 January 2018

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Genotyping and phenotyping of platelet function disorders

21 January 2018

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Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

21 January 2018

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Aggregation of Blood Platelets by Adenosine Diphosphate and its Reversal

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/BJH.12751

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30 August 2017

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