ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization (Q33418494)

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22 February 2020

title

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization (English)

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22 February 2020

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1

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22 February 2020

Caterina Marconi

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22 February 2020

Michela Faleschini

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22 February 2020

Gabriele Baj

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22 February 2020

Alessandro Pecci

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22 February 2020

Marco Seri

14

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22 February 2020

Anna Savoia

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22 February 2020

Patrizia Noris

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Tommaso Pippucci

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22 February 2020

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Ugo Ramenghi

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22 February 2020

author name string

Claudia Cagioni

5

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22 February 2020

Simonetta Pardini

9

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22 February 2020

Loretta Ngu

10

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22 February 2020

Carlo Baronci

11

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Shinji Kunishima

12

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22 February 2020

Carlo L Balduini

13

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22 February 2020

language of work or name

English

0 references

publication date

31 October 2014

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22 February 2020

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volume

125

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issue

5

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page(s)

869-872

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describes a project that uses

22 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4311232/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

Inherited thrombocytopenias frequently diagnosed in adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

ACTN1 mutations cause congenital macrothrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

Diagnosis and management of inherited thrombocytopenias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

Genetics of familial forms of thrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

Congenital macrothrombocytopenias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

Plasma thrombopoietin levels in thrombocytopenic states: implication for a regulatory role of bone marrow megakaryocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4311232

Inherited platelet disorders

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25361813

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2014-08-594531

1 reference

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22 February 2020

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22 February 2020

PubMed publication ID

25361813

1 reference

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