(Q35196362)

English

Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr)

scientific article published on April 1, 1991

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr) (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

hereditary hemorrhagic telangiectasia

0 references

Michael Boehnke

3

object named as

M Boehnke

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Francis Collins

6

object named as

F S Collins

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

author name string

M. C. Iannuzzi

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

N. Hidaka

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

M. E. Bruck

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

W. T. Hanna

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

F. S. Collins

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

D. Ginsburg

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

language of work or name

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publication date

1 April 1991

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1673047/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1673047/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

https://europepmc.org/articles/PMC1682950

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

https://europepmc.org/articles/PMC1682950?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673047

25 October 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

48

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

757-763

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Sequential tests for the detection of linkage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Hereditary hemorrhagic telangiectasia. An electron microscopic study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Genetic linkage of two intragenic restriction fragment length polymorphisms with von Willebrand's disease type IIA. Evidence for a defect in the von Willebrand factor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

RsaI RFLP in the human von Willebrand factor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Structure of the gene for human von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Factor VIII/von Willebrand factor. Structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Epitope mapping of the von Willebrand factor subunit distinguishes fragments present in normal and type IIA von Willebrand disease from those generated by plasmin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease) An Electron Microscopic Study of the Vascular Lesions Before and After Therapy With Hormones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Telangiectasia and von Willebrand's Disease in Two Families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

von Willebrand's disease and hemorrhagic telangiectasia: association of two complex disorders of hemostasis resulting in life-threatening hemorrhage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

Persistent gastrointestinal bleeding due to angiodysplasia of the gut in von Willebrand's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

13 July 2018

A study of a Caucasian family with variant von Willebrand's disease in association with vascular telangiectasia and haemoglobinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682950

24 October 2018

Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula: survey of a large family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

von Willebrand disease investigated by two novel RFLPs

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Von Willebrand disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiological investigation of the prevalence of von Willebrand's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

von Willebrand factor and von Willebrand disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of polymerase chain reaction-detected sequence polymorphisms to document engraftment following allogeneic bone marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Von Willebrand factor multimer patterns in von Willebrand's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical manifestations of hereditary hemorrhagic telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructure of hereditary telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673047%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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