(Q33404035)

26 July 2017

title

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency (English)

1 reference

26 July 2017

0 references

1 reference

Roberta Bottega

1

0 references

Daniela De Rocco

Daniela De Rocco

7

0 references

Alessandro Pecci

Alessandro Pecci

2

0 references

Anna Savoia

Anna Savoia

12

0 references

Marco Cattaneo

Marco Cattaneo

10

0 references

author name string

Erica De Candia

3

1 reference

26 July 2017

Nuria Pujol-Moix

4

1 reference

26 July 2017

Paula G Heller

5

1 reference

26 July 2017

Patrizia Noris

6

1 reference

26 July 2017

Gian Marco Podda

8

1 reference

26 July 2017

Ana C Glembotsky

9

1 reference

26 July 2017

Carlo L Balduini

11

1 reference

26 July 2017

publication date

25 October 2012

1 reference

26 July 2017

1 reference

26 July 2017

volume

98

1 reference

26 July 2017

issue

6

1 reference

26 July 2017

page(s)

868-874

1 reference

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

26 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

Advances in our understanding of the molecular basis of disorders of platelet function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

Platelet size distinguishes between inherited macrothrombocytopenias and 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=3669441

Selective sorting of alpha-granule proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

21 June 2018

Chediak-Higashi syndrome

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

21 June 2018

https://pubmed.ncbi.nlm.nih.gov/23100277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Defective platelet responsiveness to thrombin and protease-activated receptors agonists in a novel case of gray platelet syndrome: correlation between the platelet defect and the alpha-granule content in the patient and four relatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

The gray platelet syndrome: clinical spectrum of the disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

BEACH family of proteins: phylogenetic and functional analysis of six Dictyostelium BEACH proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

Gray platelet syndrome. A variety of qualitative platelet disorder

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3669441

31 October 2018

https://pubmed.ncbi.nlm.nih.gov/23100277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2012.075861

1 reference

26 July 2017

1 reference

26 July 2017

1 reference