(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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Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

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Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome

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The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

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Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels

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Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome

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Thrombopoietin expands hematopoietic stem cells after transplantation

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A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

21 January 2018

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

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Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

21 January 2018

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

21 January 2018

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An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study

21 January 2018

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L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype

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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21 January 2018

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Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

21 January 2018

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Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

21 January 2018

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21 January 2018

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Glycoprotein Ibalpha forms disulfide bonds with 2 glycoprotein Ibbeta subunits in the resting platelet

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

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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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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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21 January 2018

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Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

21 January 2018

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Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

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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21 January 2018

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21 January 2018

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Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

21 January 2018

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21 January 2018

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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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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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X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene

21 January 2018

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Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers

21 January 2018

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Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

21 January 2018

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21 January 2018

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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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12 December 2020

Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.

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12 December 2020

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

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12 December 2020

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases

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12 December 2020

Bernard-Soulier syndrome

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12 December 2020

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12 December 2020

Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities.

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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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12 December 2020

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

10.1007/S00439-012-1215-X

Identifiers

DOI

1 reference

Dimensions Publication ID

26 July 2017

1003519345

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1 reference