Literature DB >> 21654722

Clinical utility gene card for: haemophilia A.

Steve Keeney1, Tony Cumming, P Vincent Jenkins, James S O'Donnell, Michael J Nash.   

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Year:  2011        PMID： 21654722      PMCID： PMC3198139          DOI： 10.1038/ejhg.2011.107

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

1.  11 hemophilia A patients without mutations in the factor VIII encoding gene.

Authors:  N Klopp; J Oldenburg; C Uen; R Schneppenheim; J Graw
Journal:  Thromb Haemost       Date:  2002-08       Impact factor: 5.249

2.  Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

Authors:  Nadja Bogdanova; Arseni Markoff; Roswith Eisert; Cornelia Wermes; Hartmut Pollmann; Albena Todorova; Marcin Chlystun; Ulrike Nowak-Göttl; Jürgen Horst
Journal:  Hum Mutat       Date:  2007-01       Impact factor: 4.878

3.  Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Authors:  Richard D Bagnall; Naushin Waseem; Peter M Green; Francesco Giannelli
Journal:  Blood       Date:  2002-01-01       Impact factor: 22.113

4.  Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene.

Authors:  Q Liu; S S Sommer
Journal:  Biotechniques       Date:  1998-12       Impact factor: 1.993

5.  Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Authors:  Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith Eisert; Cornelia Wermes; Albena Todorova; Antonin Eigel; Bernd Dworniczak; Jürgen Horst
Journal:  Hum Mutat       Date:  2005-09       Impact factor: 4.878

6.  Genotyping the hemophilia inversion hotspot by use of inverse PCR.

Authors:  Liliana Carmen Rossetti; Claudia Pamela Radic; Irene Beatriz Larripa; Carlos Daniel De Brasi
Journal:  Clin Chem       Date:  2005-04-28       Impact factor: 8.327

7.  Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations.

Authors:  Christine Vinciguerra; Christophe Zawadzki; Yesim Dargaud; Gilles Pernod; Claire Berger; Christophe Nougier; Claude Négrier
Journal:  Thromb Haemost       Date:  2006-04       Impact factor: 5.249

8.  Evaluation of DHPLC in the analysis of hemophilia A.

Authors:  J Oldenburg; V Ivaskevicius; S Rost; A Fregin; K White; E Holinski-Feder; C R Müller; B H Weber
Journal:  J Biochem Biophys Methods       Date:  2001-01-30

9.  Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification.

Authors:  Rosa Santacroce; Vittoria Longo; Valeria Bafunno; Francesco Sessa; Massimiliano Chetta; Michelina Sarno; Nenad Bukvic; Giovanna D'Andrea; Michela Tomaiuolo; Maurizio Margaglione
Journal:  Genet Test Mol Biomarkers       Date:  2009-10

10.  Bleeding in carriers of hemophilia.

Authors:  Iris Plug; Eveline P Mauser-Bunschoten; Annette H J T Bröcker-Vriends; Hans Kristian Ploos van Amstel; Johanna G van der Bom; Joanna E M van Diemen-Homan; José Willemse; Frits R Rosendaal
Journal:  Blood       Date:  2006-03-21       Impact factor: 22.113
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