(Q33406532)

26 July 2017

title

Inherited thrombocytopenias frequently diagnosed in adults (English)

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26 July 2017

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A Savoia

2

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Marco Seri

object named as

M Seri

series ordinal

3

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author name string

C L Balduini

series ordinal

1

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26 July 2017

publication date

1 June 2013

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Journal of Thrombosis and Haemostasis

26 July 2017

published in

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26 July 2017

volume

11

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26 July 2017

issue

6

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26 July 2017

page(s)

1006-1019

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

26 July 2017

cites work

1 reference

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

1 reference

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

21 January 2018

1 reference

Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traits.

21 January 2018

1 reference

White blood cell count, sex and age are major determinants of heterogeneity of platelet indices in an adult general population: results from the MOLI-SANI project

21 January 2018

1 reference

Ethnic and sex differences in the total and differential white cell count and platelet count

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

1 reference

Congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

Human phenotypes associated with GATA-1 mutations

21 January 2018

1 reference

Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

21 January 2018

1 reference

Familial myelodysplastic syndromes: a review of the literature

21 January 2018

1 reference

Thrombocytopenias due to gray platelet syndrome or THC2 mutations

21 January 2018

1 reference

Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin

21 January 2018

1 reference

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

21 January 2018

1 reference

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

21 January 2018

1 reference

21 January 2018

1 reference

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

21 January 2018

1 reference

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

21 January 2018

1 reference

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

21 January 2018

1 reference

Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice

21 January 2018

1 reference

Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

21 January 2018

1 reference

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

21 January 2018

1 reference

Blood platelet production and morphology

21 January 2018

1 reference

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Diagnosis and management of inherited thrombocytopenias

21 January 2018

1 reference

Genetics of familial forms of thrombocytopenia

21 January 2018

1 reference

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder

21 January 2018

1 reference

Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura

21 January 2018

1 reference

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

1 reference

Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes.

21 January 2018

1 reference

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

21 January 2018

1 reference

Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10

21 January 2018

1 reference

In vivo inactivation of MASTL kinase results in thrombocytopenia

21 January 2018

1 reference

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

1 reference

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia

21 January 2018

1 reference

Proteasome particle-rich structures are widely present in human epithelial neoplasms: correlative light, confocal and electron microscopy study.

21 January 2018

1 reference

In vivo accumulation of Helicobacter pylori products, NOD1, ubiquitinated proteins and proteasome in a novel cytoplasmic structure

21 January 2018

1 reference

Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

21 January 2018

1 reference

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

21 January 2018

1 reference

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

21 January 2018

1 reference

Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia.

21 January 2018

1 reference

The clinical importance of acquired abnormalities of platelet function

21 January 2018

1 reference

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

21 January 2018

1 reference

Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/JTH.12196

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26 July 2017

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