Literature DB >> 23775583

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

Daniel J Hampshire1, Anne C Goodeve.   

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Year:  2013        PMID： 23775583      PMCID： PMC3834149          DOI： 10.1007/s00277-013-1817-y

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


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  10 in total

1.  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

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

Authors:  Daniel J Hampshire; Anne C Goodeve
Journal:  Haematologica       Date:  2011-06       Impact factor: 9.941

3.  A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families.

Authors:  Priyanka Kasatkar; Kanjaksha Ghosh; Shrimati Shetty
Journal:  Ann Hematol       Date:  2013-01-27       Impact factor: 3.673

4.  Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.

Authors:  Anna M Johansson; Christer Halldén; Torbjörn Säll; Stefan Lethagen
Journal:  Ann Hum Genet       Date:  2011-04-28       Impact factor: 1.670

5.  Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.

Authors:  Luciano Baronciani; Giovanna Cozzi; Maria Teresa Canciani; Flora Peyvandi; Alok Srivastava; Augusto B Federici; Pier Mannuccio Mannucci
Journal:  Blood Cells Mol Dis       Date:  2003 May-Jun       Impact factor: 3.039

6.  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

7.  Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Authors:  Q Y Wang; J Song; R A Gibbs; E Boerwinkle; J F Dong; F L Yu
Journal:  J Thromb Haemost       Date:  2013-02       Impact factor: 5.824

8.  Response to DDAVP in children with von Willebrand disease type 2.

Authors:  Reinhard Schneppenheim; U Budde; Karin Beutel; W-A Hassenpflug; H Hauch; T Obser; F Oyen; S Schneppenheim; J Schrum
Journal:  Hamostaseologie       Date:  2009-05       Impact factor: 1.778

9.  Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Authors:  P K Gupta; R Saxena; E Adamtziki; U Budde; F Oyen; T Obser; R Schneppenheim
Journal:  Blood Cells Mol Dis       Date:  2008-05-16       Impact factor: 3.039

10.  Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients.

Authors:  Firdos Ahmad; Ulrich Budde; Rifat Jan; Florian Oyen; Meganathan Kannan; Renu Saxena; Reinhard Schneppenheim
Journal:  Thromb Haemost       Date:  2013-02-14       Impact factor: 5.249
  10 in total
  1 in total

1.  Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Authors:  Eun-Ju Lee; Daniel J Dykas; Andrew D Leavitt; Rodney M Camire; Eduard Ebberink; Pablo García de Frutos; Kavitha Gnanasambandan; Sean X Gu; James A Huntington; Steven R Lentz; Koen Mertens; Christopher R Parish; Alireza R Rezaie; Peter P Sayeski; Caroline Cromwell; Noffar Bar; Stephanie Halene; Natalia Neparidze; Terri L Parker; Adrienne J Burns; Anne Dumont; Xiaopan Yao; Cassius Iyad Ochoa Chaar; Jean M Connors; Allen E Bale; Alfred Ian Lee
Journal:  Blood Adv       Date:  2017-06-29
  1 in total

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