Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p (Q24618306)

15

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Mauricio Arcos-Burgos

object named as

Mauricio Arcos-Burgos

11

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author name string

Meral Gunay-Aygun

1

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Yifat Zivony-Elboum

2

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Fatma Gumruk

3

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Dan Geiger

4

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Mualla Cetin

5

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Morad Khayat

6

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Robert Kleta

7

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Nehama Kfir

8

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Yair Anikster

9

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Judith Chezar

10

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Adel Shalata

12

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Horia Stanescu

13

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Joseph Manaster

14

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Hailey Edwards

16

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Andrew S Freiberg

17

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P Suzanne Hart

18

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Lauren C Riney

19

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Katherine Patzel

20

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Pranoot Tanpaiboon

21

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Tom Markello

22

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Irina Maric

24

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McDonald Horne

25

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Beate E Kehrel

26

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Kerstin Jurk

27

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Nancy F Hansen

28

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Praveen F Cherukuri

29

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Marypat Jones

30

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Pedro Cruz

31

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Jim C Mullikin

32

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Alan Nurden

33

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James G White

34

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William A Gahl

35

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Tzippora Falik-Zaccai

Tandem repeats finder: a program to analyze DNA sequences

36

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language of work or name

English

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publication date

2 December 2010

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published in

Blood

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volume

116

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issue

23

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page(s)

4990-5001

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cites work

1 reference

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The gray platelet syndrome: clinical spectrum of the disease

7 April 2017

1 reference

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Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature

7 April 2017

1 reference

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Inherited giant platelet disorders

7 April 2017

1 reference

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Comprehensive human genetic maps: individual and sex-specific variation in recombination

7 April 2017

1 reference

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The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Increased serum vitamin B12 levels are associated with adult-onset Still's disease with reactive macrophage activation syndrome

27 September 2017

1 reference

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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

27 September 2017

1 reference

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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

27 September 2017

1 reference

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X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

27 September 2017

1 reference

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Molecular defects that affect platelet dense granules

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Significance of elevated cobalamin (vitamin B12) levels in blood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Newly recognized cellular abnormalities in the gray platelet syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

The platelet release reaction: granules' constituents, secretion and functions

27 September 2017

1 reference

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Use of the electron microscope for diagnosis of platelet disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray-platelet syndrome associated with Marfan disease in a Mexican family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Defective alpha-granule production in megakaryocytes from gray platelet syndrome: ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Interaction of membrane systems in blood platelets

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray platelet syndrome in the elderly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray platelet syndrome: selective alpha-granule deficiency and thrombocytopenia due to increased platelet turnover

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Platelet immunoglobulin G: its significance for the evaluation of thrombocytopenia and for understanding the origin of alpha-granule proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha delta storage pool deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Platelet Storage Pool Deficiency, Leukemia, and Myelodysplastic Syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Ultrastructural studies of the gray platelet syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome".

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray platelet syndrome: relationship between morphological abnormality of the dense tubular system (DTS) and intracellular Ca++ mobilization in the platelet

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray Platelet Syndrome in a Somalian family.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Soluble fibrin is the main mediator of Staphylococcus aureus adhesion to platelets

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Platelets in patients with acute ischemic stroke are exhausted and refractory to thrombin, due to cleavage of the seven-transmembrane thrombin receptor (PAR-1).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

Gray platelet syndrome. A variety of qualitative platelet disorder

28 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3012593

28 November 2018

12 December 2020

Inherited defects of platelet function

1 reference

12 December 2020

Gray platelet syndrome presenting as menorrhagia

1 reference

12 December 2020

Neutrophils in the gray platelet syndrome

1 reference

12 December 2020

Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia

1 reference

12 December 2020

The magic of immersion oil: gray platelet syndrome

1 reference

12 December 2020

Electron microscopic and functional studies on platelets in gray platelet syndrome

1 reference

12 December 2020

Platelet von Willebrand factor: comparison with plasma von Willebrand factor

1 reference

12 December 2020

Severe hemorrhage in a patient with gray platelet syndrome

1 reference

12 December 2020

Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome

1 reference

12 December 2020

Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor

1 reference

12 December 2020

Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function

1 reference

12 December 2020

Membrane defects in inherited disorders of platelet function

1 reference

12 December 2020