Literature DB >> 20801902

Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations.

Irene Corrales, Lorena Ramírez, Júlia Ayats, Carme Altisent, Rafael Parra, Francisco Vidal.   

Abstract

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Year:  2010        PMID： 20801902      PMCID： PMC2966926          DOI： 10.3324/haematol.2010.028977

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


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  12 in total

Review 1.  The impact of next-generation sequencing technology on genetics.

Authors:  Elaine R Mardis
Journal:  Trends Genet       Date:  2008-02-11       Impact factor: 11.639

2.  Recommendations for locus-specific databases and their curation.

Authors:  R G H Cotton; A D Auerbach; J S Beckmann; O O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; B Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; C R Scriver; M Summar; D R Tolan; I C Verma; M Vihinen; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

3.  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

4.  A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor.

Authors:  A C Goodeve; J C Eikenboom; D Ginsburg; L Hilbert; C Mazurier; I R Peake; J E Sadler; F Rodeghiero
Journal:  Thromb Haemost       Date:  2001-05       Impact factor: 5.249

5.  Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Authors:  Mireille Claustres; Ourania Horaitis; Marijana Vanevski; Richard G H Cotton
Journal:  Genome Res       Date:  2002-05       Impact factor: 9.043

6.  Structure of the gene for human von Willebrand factor.

Authors:  D J Mancuso; E A Tuley; L A Westfield; N K Worrall; B B Shelton-Inloes; J M Sorace; Y G Alevy; J E Sadler
Journal:  J Biol Chem       Date:  1989-11-25       Impact factor: 5.157

7.  Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.

Authors:  Irene Corrales; Lorena Ramírez; Carme Altisent; Rafael Parra; Francisco Vidal
Journal:  Thromb Haemost       Date:  2009-03       Impact factor: 5.249

Review 8.  von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Authors:  D Ginsburg; J E Sadler
Journal:  Thromb Haemost       Date:  1993-02-01       Impact factor: 5.249

9.  A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Authors:  J E Sadler
Journal:  Thromb Haemost       Date:  1994-04       Impact factor: 5.249

10.  Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene.

Authors:  F Bernardi; G Marchetti; A Casonato; D Gemmati; P Patracchini; C Legnani; V DeRosa; A Girolami; F Conconi
Journal:  Br J Haematol       Date:  1990-03       Impact factor: 6.998
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  2 in total

1.  High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods.

Authors:  Irene Corrales; Susana Catarino; Júlia Ayats; David Arteta; Carmen Altisent; Rafael Parra; Francisco Vidal
Journal:  Haematologica       Date:  2012-02-07       Impact factor: 9.941

2.  Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Authors:  Luciano Baronciani; Ian Peake; Reinhard Schneppenheim; Anne Goodeve; Minoo Ahmadinejad; Zahra Badiee; Mohammad-Reza Baghaipour; Olga Benitez; Imre Bodó; Ulrich Budde; Andrea Cairo; Giancarlo Castaman; Peyman Eshghi; Jenny Goudemand; Wolf Hassenpflug; Hamid Hoorfar; Mehran Karimi; Bijan Keikhaei; Riitta Lassila; Frank W G Leebeek; Maria Fernanda Lopez Fernandez; Pier Mannuccio Mannucci; Renato Marino; Nikolas Nikšić; Florian Oyen; Cristina Santoro; Andreas Tiede; Gholamreza Toogeh; Alberto Tosetto; Marc Trossaert; Eva M K Zetterberg; Jeroen Eikenboom; Augusto B Federici; Flora Peyvandi
Journal:  Blood Adv       Date:  2021-08-10
  2 in total

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