(Q42550935)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

case report

0 references

title

Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

main subject

venous thromboembolism

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Elvira Grandone

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Maurizio Margaglione

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Lucio Amitrano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Luigi Iannaccone

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Patrizia Vergura

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Filomena Cappucci

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Maria Anna Guardascione

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

16 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

412-416

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Polycythemia vera: myths, mechanisms, and management

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Current trends in essential thrombocythaemia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Inherited thrombophilia: pathogenesis, clinical syndromes, and management.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

The epidemiology of diagnosed pulmonary embolism and deep venous thrombosis in the elderly.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Central retinal vein occlusion and thrombophilia risk factors

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Prevalence of hereditary thrombophilia in patients with thrombosis in different venous systems

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Cause of portal or hepatic venous thrombosis in adults: The role of multiple concurrent factors

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740894

Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor V Leiden mutation

1 December 2018

1 reference

12 December 2020

Inherited thrombophilia: Part 1

1 reference

12 December 2020

Risk factors for thrombophilia in extrahepatic portal vein obstruction

1 reference

12 December 2020

Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors

1 reference

12 December 2020

Increased prevalence of factor V Leiden in patients with retinal vein occlusion and under 60 years of age

1 reference

12 December 2020

Inherited Thrombophilic Risk Factors and Venous Thromboembolism

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.048371

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17307838%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference