Literature DB >> 21632843

The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.

Daniel J Hampshire, Anne C Goodeve.   

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Year:  2011        PMID： 21632843      PMCID： PMC3105639          DOI： 10.3324/haematol.2011.046623

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


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  16 in total

1.  Characterization of duplication breakpoints in the factor VIII gene.

Authors:  M A Zimmermann; J Oldenburg; C R Müller; S Rost
Journal:  J Thromb Haemost       Date:  2010-12       Impact factor: 5.824

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

Authors:  Claude Houdayer; Catherine Dehainault; Christophe Mattler; Dorothée Michaux; Virginie Caux-Moncoutier; Sabine Pagès-Berhouet; Catherine Dubois d'Enghien; Anthony Laugé; Laurent Castera; Marion Gauthier-Villars; Dominique Stoppa-Lyonnet
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878

3.  Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.

Authors:  J Eikenboom; L Hilbert; A S Ribba; A Hommais; D Habart; S Messenger; A Al-Buhairan; A Guilliatt; W Lester; C Mazurier; D Meyer; E Fressinaud; U Budde; K Will; R Schneppenheim; T Obser; O Marggraf; E Eckert; G Castaman; F Rodeghiero; A B Federici; J Batlle; J Goudemand; J Ingerslev; S Lethagen; F Hill; I Peake; A Goodeve
Journal:  J Thromb Haemost       Date:  2009-06-30       Impact factor: 5.824

4.  The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation.

Authors:  Caterina Casari; Mirko Pinotti; Stefano Lancellotti; Elena Adinolfi; Alessandra Casonato; Raimondo De Cristofaro; Francesco Bernardi
Journal:  Blood       Date:  2010-08-27       Impact factor: 22.113

Review 5.  The genetic basis of von Willebrand disease.

Authors:  Anne C Goodeve
Journal:  Blood Rev       Date:  2010-04-20       Impact factor: 8.250

6.  Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease.

Authors:  Maha Othman; Yvette Chirinian; Christine Brown; Colleen Notley; Nicholas Hickson; Daniel Hampshire; Suzanne Buckley; Simon Waddington; Alan L Parker; Andrew Baker; Paula James; David Lillicrap
Journal:  Blood       Date:  2010-08-09       Impact factor: 22.113

7.  A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.

Authors:  Megan S Sutherland; Anthony M Cumming; Mackenzie Bowman; Paula H B Bolton-Maggs; Derrick J Bowen; Peter W Collins; Charles R M Hay; Andrew M Will; Stephen Keeney
Journal:  Blood       Date:  2009-04-16       Impact factor: 22.113

8.  A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons.

Authors:  Paula D James; Lee A O'Brien; Carol A Hegadorn; Colleen R P Notley; Gary D Sinclair; Christine Hough; Man-Chiu Poon; David Lillicrap
Journal:  Blood       Date:  2004-06-29       Impact factor: 22.113

9.  The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.

Authors:  S Keeney; D Bowen; A Cumming; S Enayat; A Goodeve; M Hill
Journal:  Haemophilia       Date:  2008-07-14       Impact factor: 4.287

10.  A de novo and heterozygous gene deletion causing a variant of von Willebrand disease.

Authors:  F Bernardi; G Marchetti; S Guerra; A Casonato; D Gemmati; P Patracchini; G Ballerini; F Conconi
Journal:  Blood       Date:  1990-02-01       Impact factor: 22.113
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  7 in total

1.  Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

Authors:  Ashley Cartwright; Simon J Webster; Annika de Jong; Richard J Dirven; Lisa D S Bloomer; Ahlam M Al-Buhairan; Ulrich Budde; Christer Halldén; David Habart; Jenny Goudemand; Ian R Peake; Jeroen C J Eikenboom; Anne C Goodeve; Daniel J Hampshire
Journal:  Blood Adv       Date:  2020-07-14

2.  Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Authors:  Marie-Daniéla Dubois; Ivan Peyron; Olivier-Nicolas Pierre-Louis; Serge Pierre-Louis; Johalène Rabout; Pierre Boisseau; Annika de Jong; Sophie Susen; Jenny Goudemand; Rémi Neviere; Pascal Fuseau; Olivier D Christophe; Peter J Lenting; Cécile V Denis; Caterina Casari
Journal:  Res Pract Thromb Haemost       Date:  2022-06-15

3.  Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Authors:  Daniel J Hampshire; Adel M Abuzenadah; Ashley Cartwright; Nawal S Al-Shammari; Rachael E Coyle; Michaela Eckert; Ahlam M Al-Buhairan; Sarah L Messenger; Ulrich Budde; Türkiz Gürsel; Jørgen Ingerslev; Ian R Peake; Anne C Goodeve
Journal:  Thromb Haemost       Date:  2013-05-23       Impact factor: 5.249

4.  p.P2063S: a neutral VWF variant masquerading as a mutation.

Authors:  Daniel J Hampshire; Anne C Goodeve
Journal:  Ann Hematol       Date:  2013-06-18       Impact factor: 3.673

5.  Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site.

Authors:  Hamideh Yadegari; Arijit Biswas; Mohammad Suhail Akhter; Julia Driesen; Vytautas Ivaskevicius; Natascha Marquardt; Johannes Oldenburg
Journal:  Blood       Date:  2016-08-19       Impact factor: 22.113

6.  A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Authors:  Agnès Veyradier; Pierre Boisseau; Edith Fressinaud; Claudine Caron; Catherine Ternisien; Mathilde Giraud; Christophe Zawadzki; Marc Trossaert; Nathalie Itzhar-Baïkian; Marie Dreyfus; Roseline d'Oiron; Annie Borel-Derlon; Sophie Susen; Stéphane Bezieau; Cécile V Denis; Jenny Goudemand
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889

7.  Additional markers for genetic diagnosis of type 3 von Willebrand disease in Indian population.

Authors:  Priyanka Kasatkar; Kanjaksha Ghosh; Shrimati Shetty
Journal:  Indian J Med Res       Date:  2015-12       Impact factor: 2.375
  7 in total

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