(Q24671677)

hereditary angioedema type III

inferred from title

1 reference

1

0 references

Hans Christian Hennies

3

Hans Christian Hennies

0 references

Markus M Nöthen

Markus M Nöthen

12

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Christian Drouet

Christian Drouet

10

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Anna Karpushova

6

Anna Karpushova

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author name string

Ludovic Martin

2

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Felicitas Müller

4

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Karen Van Driessche

5

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Wim Stevens

7

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Roberto Colombo

8

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Thomas Renné

9

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Konrad Bork

American Journal of Human Genetics

11

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language of work or name

English

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publication date

December 2006

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published in

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volume

79

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page(s)

1098-104

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issue

6

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cites work

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Defective thrombus formation in mice lacking coagulation factor XII

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

A high-resolution recombination map of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Hereditary angioedema with normal C1-inhibitor activity in women

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Mutation of human short tandem repeats

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Measuring the strength of associations between HLA antigens and diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Surface-mediated defense reactions. The plasma contact activation system

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

New-variant hereditary angioedema in three brothers with normal C1 esterase inhibitor level and function

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Bradykinin-mediated angioedema

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

In vitro activation of the contact (Hageman factor) system of plasma by heparin and chondroitin sulfate E

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698720

Local bradykinin formation is controlled by glycosaminoglycans

28 November 2018

1 reference

12 December 2020

Molecular genetics of C1 inhibitor

1 reference

12 December 2020

Structure/function analysis of human factor XII using recombinant deletion mutants. Evidence for an additional region involved in the binding to negatively charged surfaces

1 reference

12 December 2020

Idiopathic nonhistaminergic angioedema

1 reference

12 December 2020

Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission

1 reference

12 December 2020

Molecular basis of estrogen regulation of Hageman factor XII gene expression

1 reference

12 December 2020

Identifiers

DOI

10.1086/509899

1 reference

2793986

2793986

1 reference

1 reference

1 reference