Literature DB >> 20851871

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.

Daniel J Hampshire, George J Burghel, Jenny Goudemand, Laura C S Bouvet, Jeroen C J Eikenboom, Reinhard Schneppenheim, Ulrich Budde, Ian R Peake, Anne C Goodeve.   

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Year:  2010        PMID： 20851871      PMCID： PMC2995578          DOI： 10.3324/haematol.2010.027177

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  13 in total

1.  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.

Authors:  J Eikenboom; V Van Marion; H Putter; A Goodeve; F Rodeghiero; G Castaman; A B Federici; J Batlle; D Meyer; C Mazurier; J Goudemand; R Schneppenheim; U Budde; J Ingerslev; Z Vorlova; D Habart; L Holmberg; S Lethagen; J Pasi; F Hill; I Peake
Journal:  J Thromb Haemost       Date:  2006-04       Impact factor: 5.824

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

Authors:  Paula D James; Colleen Notley; Carol Hegadorn; Jayne Leggo; Angie Tuttle; Shawn Tinlin; Christine Brown; Chandler Andrews; Andrea Labelle; Yvette Chirinian; Lee O'Brien; Maha Othman; Georges Rivard; Dilys Rapson; Christine Hough; David Lillicrap
Journal:  Blood       Date:  2007-01-01       Impact factor: 22.113

3.  Automated detection of point mutations using fluorescent sequence trace subtraction.

Authors:  J K Bonfield; C Rada; R Staden
Journal:  Nucleic Acids Res       Date:  1998-07-15       Impact factor: 16.971

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

Authors:  J C Eikenboom; P H Reitsma; E Briët
Journal:  Ann Hematol       Date:  1994-03       Impact factor: 3.673

5.  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).

Authors:  Anne Goodeve; Jeroen Eikenboom; Giancarlo Castaman; Francesco Rodeghiero; Augusto B Federici; Javier Batlle; Dominique Meyer; Claudine Mazurier; Jenny Goudemand; Reinhard Schneppenheim; Ulrich Budde; Jorgen Ingerslev; David Habart; Zdena Vorlova; Lars Holmberg; Stefan Lethagen; John Pasi; Frank Hill; Mohammad Hashemi Soteh; Luciano Baronciani; Christer Hallden; Andrea Guilliatt; Will Lester; Ian Peake
Journal:  Blood       Date:  2006-09-19       Impact factor: 22.113

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

Authors:  Lysiane Hilbert; Sylvie Jorieux; Valérie Proulle; Rémi Favier; Jenny Goudemand; Armelle Parquet; Dominique Meyer; Edith Fressinaud; Claudine Mazurier
Journal:  Br J Haematol       Date:  2003-02       Impact factor: 6.998

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

Authors:  M R Thomas; J A Cutler; G F Savidge
Journal:  Clin Appl Thromb Hemost       Date:  2006-04       Impact factor: 2.389

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

Authors:  Anthony Cumming; Pamela Grundy; Stephen Keeney; William Lester; Said Enayat; Andrea Guilliatt; Derrick Bowen; John Pasi; David Keeling; Frank Hill; Paula H B Bolton-Maggs; Charles Hay; Peter Collins
Journal:  Thromb Haemost       Date:  2006-11       Impact factor: 5.249

9.  Identification of disulfide-bridged substructures within human von Willebrand factor.

Authors:  T Marti; S J Rösselet; K Titani; K A Walsh
Journal:  Biochemistry       Date:  1987-12-15       Impact factor: 3.162

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

Authors:  Sara Zanardelli; Alain C K Chion; Evelyn Groot; Peter J Lenting; Thomas A J McKinnon; Mike A Laffan; Michelle Tseng; David A Lane
Journal:  Blood       Date:  2009-07-08       Impact factor: 22.113
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  6 in total

1.  Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.

Authors:  Jiong-Wei Wang; Karine M Valentijn; Hetty C de Boer; Richard J Dirven; Anton Jan van Zonneveld; Abraham J Koster; Jan Voorberg; Pieter H Reitsma; Jeroen Eikenboom
Journal:  J Biol Chem       Date:  2011-05-19       Impact factor: 5.157

2.  Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Authors:  Junmei Chen; Jesse D Hinckley; Sandra Haberichter; Paula Jacobi; Robert Montgomery; Veronica H Flood; Randall Wong; Gianluca Interlandi; Dominic W Chung; José A López; Jorge Di Paola
Journal:  Blood       Date:  2015-05-27       Impact factor: 22.113

3.  VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.

Authors:  Jeroen Eikenboom; Augusto B Federici; Richard J Dirven; Giancarlo Castaman; Francesco Rodeghiero; Ulrich Budde; Reinhard Schneppenheim; Javier Batlle; Maria Teresa Canciani; Jenny Goudemand; Ian Peake; Anne Goodeve
Journal:  Blood       Date:  2013-01-24       Impact factor: 22.113

Review 4.  The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.

Authors:  Mike A Laffan; Will Lester; James S O'Donnell; Andrew Will; Robert Campbell Tait; Anne Goodeve; Carolyn M Millar; David M Keeling
Journal:  Br J Haematol       Date:  2014-08-12       Impact factor: 6.998

5.  [The function and clinical value of Von Willebrand factor propeptide].

Authors:  Jie Yin; Changgeng Ruan
Journal:  Zhonghua Xue Ye Xue Za Zhi       Date:  2015-10

6.  Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.

Authors:  Faisal M Alzahrani; Nemat Aldossary; Fathelrahman Mahdi Hassan
Journal:  Med Arch       Date:  2020-10
  6 in total

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