Literature DB >> 19949707

Recurrent and founder mutations in inherited cardiac diseases in the Netherlands.

J P van Tintelen1, A A M Wilde, J D H Jongbloed.   

Abstract

Entities:  

Year:  2009        PMID： 19949707      PMCID： PMC2779475          DOI： 10.1007/bf03086292

Source DB:  PubMed          Journal:  Neth Heart J        ISSN： 1568-5888            Impact factor:   2.380


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  10 in total

1.  Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Authors:  Sigrid W Fouchier; John J P Kastelein; Joep C Defesche
Journal:  Hum Mutat       Date:  2005-12       Impact factor: 4.878

2.  Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  J Peter van Tintelen; Mark M Entius; Zahurul A Bhuiyan; Roselie Jongbloed; Ans C P Wiesfeld; Arthur A M Wilde; Jasper van der Smagt; Ludolf G Boven; Marcel M A M Mannens; Irene M van Langen; Robert M W Hofstra; Luuk C Otterspoor; Pieter A F M Doevendans; Luz-Maria Rodriguez; Isabelle C van Gelder; Richard N W Hauer
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

3.  GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands.

Authors:  J F Hermans; I Christiaans; J P van Tintelen; A A M Wilde; Y M Pinto
Journal:  Neth Heart J       Date:  2006-08       Impact factor: 2.380

4.  Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.

Authors:  J C Defesche; D E Van Diermen; M R Hayden; J P Kastelein
Journal:  Gene Geogr       Date:  1996-04

5.  The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.

Authors:  Lia Crotti; Carla Spazzolini; Peter J Schwartz; Wataru Shimizu; Isabelle Denjoy; Eric Schulze-Bahr; Elena V Zaklyazminskaya; Heikki Swan; Michael J Ackerman; Arthur J Moss; Arthur A M Wilde; Minoru Horie; Paul A Brink; Roberto Insolia; Gaetano M De Ferrari; Gabriele Crimi
Journal:  Circulation       Date:  2007-11-05       Impact factor: 29.690

6.  Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.

Authors:  Marielle Alders; Tamara T Koopmann; Imke Christiaans; Pieter G Postema; Leander Beekman; Michael W T Tanck; Katja Zeppenfeld; Peter Loh; Karel T Koch; Sophie Demolombe; Marcel M A M Mannens; Connie R Bezzina; Arthur A M Wilde
Journal:  Am J Hum Genet       Date:  2009-03-12       Impact factor: 11.025

7.  Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide.

Authors:  P G Postema; M Van den Berg; J P Van Tintelen; F Van den Heuvel; M Grundeken; N Hofman; W P Van der Roest; E A Nannenberg; I P C Krapels; C R Bezzina; A Wilde
Journal:  Neth Heart J       Date:  2009-11       Impact factor: 2.380

8.  The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Authors:  Marielle Alders; Roselie Jongbloed; Wout Deelen; Arthur van den Wijngaard; Pieter Doevendans; Folkert Ten Cate; Vera Regitz-Zagrosek; Hans Peter Vosberg; Irene van Langen; Arthur Wilde; Dennis Dooijes; Marcel Mannens
Journal:  Eur Heart J       Date:  2003-10       Impact factor: 29.983

9.  Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

Authors:  J Peter van Tintelen; Isabelle C Van Gelder; Angeliki Asimaki; Albert J H Suurmeijer; Ans C P Wiesfeld; Jan D H Jongbloed; Arthur van den Wijngaard; Jan B M Kuks; Karin Y van Spaendonck-Zwarts; Nicolette Notermans; Ludolf Boven; Freek van den Heuvel; Hermine E Veenstra-Knol; Jeffrey E Saffitz; Robert M W Hofstra; Maarten P van den Berg
Journal:  Heart Rhythm       Date:  2009-07-28       Impact factor: 6.343

Review 10.  Founder mutations among the Dutch.

Authors:  Maurice P A Zeegers; Frans van Poppel; Robert Vlietinck; Liesbeth Spruijt; Harry Ostrer
Journal:  Eur J Hum Genet       Date:  2004-07       Impact factor: 4.246
  10 in total
  2 in total

Review 1.  Genetic Basis of Dilated Cardiomyopathy in Dogs and Its Potential as a Bidirectional Model.

Authors:  Karen R Gaar-Humphreys; Talitha C F Spanjersberg; Giorgia Santarelli; Guy C M Grinwis; Viktor Szatmári; Bernard A J Roelen; Aryan Vink; J Peter van Tintelen; Folkert W Asselbergs; Hille Fieten; Magdalena Harakalova; Frank G van Steenbeek
Journal:  Animals (Basel)       Date:  2022-06-29       Impact factor: 3.231

2.  The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy.

Authors:  J F van der Heijden; R J Hassink
Journal:  Neth Heart J       Date:  2013-06       Impact factor: 2.380
  2 in total

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