(Q36658007)

English

Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

scientific article published on 14 March 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Reinhard Schneppenheim

13

object named as

Reinhard Schneppenheim

0 references

3

object named as

Ulrich Budde

0 references

Dominique Meyer

9

object named as

Dominique Meyer

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object named as

Javier Batlle

8

0 references

object named as

Anne Goodeve

5

0 references

Jeroen C J Eikenboom

object named as

Jeroen Eikenboom

12

0 references

Giancarlo Castaman

2

object named as

Giancarlo Castaman

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Francesco Rodeghiero

6

object named as

Francesco Rodeghiero

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Sandra L Haberichter

1

object named as

Sandra L Haberichter

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

4

object named as

Ian Peake

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Claudine Mazurier

10

object named as

Claudine Mazurier

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Jenny Goudemand

11

object named as

Jenny Goudemand

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Jorgen Ingerslev

14

object named as

Jorgen Ingerslev

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

15

object named as

Zdena Vorlova

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

Augusto B Federici

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

David Habart

16

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Lars Holmberg

17

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Stefan Lethagen

18

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

John Pasi

19

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Frank G H Hill

20

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Robert R Montgomery

21

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

language of work or name

0 references

publication date

14 March 2008

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

111

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

10

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

4979-4985

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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=2384129

30 September 2017

Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

von Willebrand factor storage and multimerization: 2 independent intracellular processes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

von Willebrand factor propeptide in vascular disorders: A tool to distinguish between acute and chronic endothelial cell perturbation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Biochemistry and genetics of von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Platelet von Willebrand factor in inherited and acquired bleeding disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Immunolocalization of von Willebrand protein in Weibel-Palade bodies of human endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

Cell biology of von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

30 September 2017

von Willebrand's disease antigen II. A new plasma and platelet antigen deficient in severe 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=2384129

30 September 2017

Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

28 June 2018

Quantitative analysis of von Willebrand factor propeptide release in vivo: effect of experimental endotoxemia and administration of 1-deamino-8-D-arginine vasopressin in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

28 June 2018

von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

28 June 2018

Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

28 June 2018

Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

28 June 2018

Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

20 September 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=2384129

20 September 2018

Cysteine-mutations in von Willebrand factor associated with increased clearance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

20 September 2018

Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

20 September 2018

Reduced von Willebrand factor survival in type Vicenza von Willebrand disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2384129

20 September 2018

Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Luminography--an alternative assay for detection of von Willebrand factor multimers

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

von Willebrand factor proteolytic processing and multimerization precede the formation of Weibel-Palade bodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

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/18344424

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/18344424

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/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18344424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2007-09-110940

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

0 references

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