Genetics of familial forms of thrombocytopenia (Q33402780)

26 July 2017

title

Genetics of familial forms of thrombocytopenia (English)

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26 July 2017

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Anna Savoia

2

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author name string

Carlo L Balduini

series ordinal

1

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26 July 2017

publication date

11 August 2012

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26 July 2017

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26 July 2017

volume

131

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26 July 2017

issue

12

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26 July 2017

page(s)

1821-1832

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

26 July 2017

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Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia

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21 January 2018

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21 January 2018

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21 January 2018

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Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

21 January 2018

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FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

21 January 2018

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

21 January 2018

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An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A lineage-restricted and divergent beta-tubulin isoform is essential for the biogenesis, structure and function of blood platelets

21 January 2018

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Wiskott Aldrich syndrome: an immunodeficiency syndrome not rare in Western Australia

21 January 2018

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Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

21 January 2018

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Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

21 January 2018

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Novel point mutation in a leucine-rich repeat of the GPIbalpha 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

21 January 2018

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21 January 2018

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21 January 2018

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Perspectives on RUNX genes: an update

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12 December 2020

Gray platelet syndrome. A variety of qualitative platelet disorder

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12 December 2020

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients

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12 December 2020

Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10

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Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia

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Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation

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Bernard-Soulier syndrome

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12 December 2020

Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis

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12 December 2020

Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease

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X-linked syndrome of platelet dysfunction, thrombocytopenia, and imbalanced globin chain synthesis with hemolysis.

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12 December 2020

Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients.

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12 December 2020

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12 December 2020

Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome?

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12 December 2020

Acute lymphoidic leukemia in a patient with thrombocytopenia/absent radii (Tar) syndrome

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12 December 2020

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12 December 2020

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12 December 2020

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Identifiers

DOI

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Dimensions Publication ID

26 July 2017

1003519345

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