(Q33422383)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

review article

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title

Diagnosis and treatment of inherited thrombocytopenias (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

A Pecci

series ordinal

1

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26 July 2017

publication date

20 May 2015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

89

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

141-153

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

Familial myelodysplastic syndromes: a review of the literature

21 January 2018

1 reference

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

21 January 2018

1 reference

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

21 January 2018

1 reference

Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome

21 January 2018

1 reference

21 January 2018

1 reference

ACTN1 mutations cause congenital macrothrombocytopenia

21 January 2018

1 reference

International consensus report on the investigation and management of primary immune thrombocytopenia

21 January 2018

1 reference

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Inherited thrombocytopenias frequently diagnosed in adults

21 January 2018

1 reference

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

21 January 2018

1 reference

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

21 January 2018

1 reference

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

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

Inherited thrombocytopenia due to GATA-1 mutations

21 January 2018

1 reference

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

21 January 2018

1 reference

Thrombocytopenia-absent radius syndrome: a clinical genetic study

21 January 2018

1 reference

Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome

21 January 2018

1 reference

Platelet morphology analysis

21 January 2018

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Wiskott-Aldrich syndrome: a comprehensive review

21 January 2018

1 reference

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

21 January 2018

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Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

21 January 2018

1 reference

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

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

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).

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

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

21 January 2018

1 reference

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

21 January 2018

1 reference

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

21 January 2018

1 reference

A dominant-negative GFI1B mutation in the gray platelet syndrome

21 January 2018

1 reference

21 January 2018

Bernard-Soulier syndrome

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Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

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

Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders.

21 January 2018

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

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

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

21 January 2018

1 reference

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

21 January 2018

1 reference

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

21 January 2018

1 reference

The clinical importance of acquired abnormalities of platelet function

21 January 2018

1 reference

Occurrence of thrombosis in congenital thrombocytopenic disorders: a critical annotation of the literature

21 January 2018

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Platelet transfusion: a clinical practice guideline from the AABB.

21 January 2018

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A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO.

21 January 2018

1 reference

Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions

21 January 2018

1 reference

MYH9-related platelet disorders

21 January 2018

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Cochlear implantation is safe and effective in patients with MYH9-related disease

21 January 2018

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The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects.

21 January 2018

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Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET).

21 January 2018

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Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy

21 January 2018

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Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome

21 January 2018

1 reference

Recombinant activated factor VII for hemostatic cover of orthopedic interventions in a girl with thrombocytopenia with absent radii syndrome

21 January 2018

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Thrombopoietin-receptor agonists

21 January 2018

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

21 January 2018

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First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia

21 January 2018

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A patient with Fechtner syndrome successfully treated with romiplostim

21 January 2018

1 reference

Safety and efficacy of thrombopoietin-receptor agonists in myelodysplastic syndromes: a systematic review and meta-analysis of randomized controlled trials

21 January 2018

1 reference

Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment

21 January 2018

1 reference

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

21 January 2018

1 reference

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

21 January 2018

1 reference

Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature

21 January 2018

1 reference

Congenital amegakaryocytic thrombocytopenia: a case report of pediatric twins undergoing matched unrelated bone marrow transplantation

21 January 2018

1 reference

Stem-cell gene therapy for the Wiskott-Aldrich syndrome

21 January 2018

1 reference

Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity

21 January 2018

1 reference

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

21 January 2018

1 reference

Diagnosis and management of inherited thrombocytopenias

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

1 reference

Thrombocytopenia-absent radius syndrome

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

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

21 January 2018

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Spectrum of the mutations in Bernard-Soulier 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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21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12603

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25920516%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference