(Q42337433)

English

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

scientific article published on 17 September 2010

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort (English)

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

Jeroen C J Eikenboom

object named as

Jeroen C J Eikenboom

5

0 references

object named as

Anne C Goodeve

9

0 references

Reinhard Schneppenheim

6

object named as

Reinhard Schneppenheim

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

author name string

Daniel J Hampshire

1

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

George J Burghel

2

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

Jenny Goudemand

3

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

Laura C S Bouvet

4

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

Ulrich Budde

7

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

Ian R Peake

8

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

EU-VWD and ZPMCB-VWD study groups

10

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

publication date

17 September 2010

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

95

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

12

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

2163-2165

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

A novel binding site for ADAMTS13 constitutively exposed on the surface of globular VWF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

29 May 2018

The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

29 May 2018

Automated detection of point mutations using fluorescent sequence trace subtraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

29 May 2018

Evaluation of in silico splice tools for decision-making in molecular diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

17 August 2018

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

17 August 2018

Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

17 August 2018

The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

30 September 2018

Molecular misdiagnosis in type 2B von Willebrand disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995578

1 December 2018

Identification of disulfide-bridged substructures within human von Willebrand factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/20851871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seeming homozygosity in type-IIB von Willebrand's disease due to a polymorphism within the sequence of a commonly used primer

1 reference

https://pubmed.ncbi.nlm.nih.gov/20851871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD

1 reference

https://pubmed.ncbi.nlm.nih.gov/20851871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/20851871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20851871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20851871

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3324/HAEMATOL.2010.027177

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

27 October 2017

ResearchGate publication ID

0 references

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