Literature DB >> 19204763

Enhanced carrier and prenatal diagnosis in the Italian haemophilia B population.

Anne Goodeve1.   

Abstract

Entities:  

Year:  2007        PMID： 19204763      PMCID： PMC2535894          DOI： 10.2450/2007.0034-07

Source DB:  PubMed          Journal:  Blood Transfus        ISSN： 1723-2007            Impact factor:   3.443


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  10 in total

1.  Deep intronic mutations are rarely a cause of hemophilia B.

Authors:  J Feng; Q Liu; J Drost; S S Sommer
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

2.  Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk.

Authors:  E C Thorland; J B Drost; J M Lusher; I Warrier; A Shapiro; M A Koerper; D Dimichele; J Westman; N S Key; S S Sommer
Journal:  Haemophilia       Date:  1999-03       Impact factor: 4.287

3.  Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity.

Authors:  R Ljung; P Petrini; L Tengborn; E Sjörin
Journal:  Br J Haematol       Date:  2001-04       Impact factor: 6.998

4.  The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

Authors:  Giuseppe Tagariello; Donata Belvini; Roberta Salviato; Rosanna Di Gaetano; Daniela Zanotto; Paolo Radossi; Renzo Risato; Roberto Sartori; Cristina Tassinari
Journal:  Blood Transfus       Date:  2007-07       Impact factor: 3.443

5.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

6.  Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis.

Authors:  I J Williams; A Abuzenadah; P R Winship; F E Preston; G Dolan; J Wright; I R Peake; A C Goodeve
Journal:  Thromb Haemost       Date:  1998-04       Impact factor: 5.249

7.  Molecular genotyping of the Italian cohort of patients with hemophilia B.

Authors:  Donata Belvini; Roberta Salviato; Paolo Radossi; Federica Pierobon; Piergiorgio Mori; Giuseppe Castaldo; Giuseppe Tagariello
Journal:  Haematologica       Date:  2005-05       Impact factor: 9.941

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.  Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

Authors:  O Knobloch; B Zoll; K Zerres; H H Brackmann; K Olek; M Ludwig
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

10.  First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres.

Authors:  S Saad; G Rowley; L Tagliavacca; P M Green; F Giannelli
Journal:  Thromb Haemost       Date:  1994-05       Impact factor: 5.249
  10 in total

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