Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders (Q35105533)

6 August 2017

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title

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders (English)

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6 August 2017

5

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Hildegard Kehrer-Sawatzki

6 August 2017

series ordinal

3

object named as

Hildegard Kehrer-Sawatzki

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6 August 2017

Kim Fechtel

1

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6 August 2017

Marika L Osterbur

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2

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6 August 2017

Peter D Stenson

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4

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6 August 2017

3 May 2011

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6 August 2017

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6 August 2017

130

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6 August 2017

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6 August 2017

149-166

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https://scigraph.springernature.com/pub.10.1007/s00439-011-0984-y

6 August 2017

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Associated prothrombotic conditions are probably responsible for the occurrence of thrombosis in almost all patients with congenital FVII deficiency. Critical review of the literature

9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

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9 July 2018

Inhibitor development.

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DNA amplification is a ubiquitous mechanism of oncogene activation in lung and other cancers.

9 July 2018

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The fine-scale and complex architecture of human copy-number variation

9 July 2018

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Multiple congenital coagulopathies co-expressed with Von Willebrand's disease: the experience of Hemophilia Region III Treatment Centers over 25 years and review of the literature

9 July 2018

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Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study

9 July 2018

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The diploid genome sequence of an individual human

9 July 2018

1 reference

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

9 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

A comprehensive analysis of common copy-number variations in the human genome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

The incidentalome: a threat to genomic medicine

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Factor XIII Val34Leu variant is protective against venous thromboembolism: a HuGE review and meta-analysis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Main clinical manifestations of a bleeding diathesis: an often disregarded aspect of medical and surgical history taking

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Coexistence of antithrombin deficiency, factor V Leiden and hyperhomocysteinemia in a thrombotic family.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

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.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews

9 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

9 July 2018

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Mutation in blood coagulation factor V associated with resistance to activated protein C.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Anti- and procoagulant activities in factor VII-deficient subjects.

9 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Lower levels of ADAMTS13 are associated with cardiovascular disease in young patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Warfarin genotyping reduces hospitalization rates results from the MM-WES (Medco-Mayo Warfarin Effectiveness study).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Polymorphism in factor VII gene modifies phenotype of severe haemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Apolipoprotein(a) kringle IV repeat number predicts risk for coronary heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Double inherited thrombophilias and adverse pregnancy outcomes: fashion or science?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0984-Y

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Aspirin for the Primary Prevention of Cardiovascular Events: An Update of the Evidence for the U.S. Preventive Services Task Force

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

The factor V HR2 haplotype and the risk of venous thrombosis: a meta-analysis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Haemophilia and thrombophilia. What do we learn about combined inheritance of both genetic variations?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Double carriers of the factor V Leiden and prothrombin (FIIG20210A) mutations: a description of four cases

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3136392

Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease

27 September 2018

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12 December 2020

Thrombosis in inherited factor VII deficiency

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12 December 2020

Sex difference in risk of recurrent venous thrombosis and the risk profile for a second event

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12 December 2020

A case of deep vein thrombosis in patient with Hermansky-Pudlak syndrome

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12 December 2020

ACOG Committee Opinion No. 451: Von Willebrand disease in women

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12 December 2020

Gene variants associated with venous thrombosis: confirmation in the MEGA study

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12 December 2020

Risk of thrombosis in patients homozygous for factor V Leiden

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12 December 2020

Prenatal diagnosis in combined antithrombin and factor V gene mutation

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12 December 2020

Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis

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12 December 2020

Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families?

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12 December 2020

Arterial and venous thrombosis associated to combined deficiency of protein C and antithrombin III

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12 December 2020

A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects

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12 December 2020

Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM

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12 December 2020

Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family

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12 December 2020

Combination of congenital coagulation disorders: Factor II gene mutation G20210A, Factor V Leiden gene mutation G1691A and protein S deficiency. a family study

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12 December 2020

Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies

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12 December 2020

10.1007/S00439-011-0984-Y

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference