R
Roselie Jongbloed
Researcher at Maastricht University
Publications - 35
Citations - 1430
Roselie Jongbloed is an academic researcher from Maastricht University. The author has contributed to research in topics: hERG & Sudden death. The author has an hindex of 19, co-authored 35 publications receiving 1357 citations. Previous affiliations of Roselie Jongbloed include Maastricht University Medical Centre.
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Journal ArticleDOI
Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
J. Peter van Tintelen,Mark M. Entius,Zahurul A. Bhuiyan,Roselie Jongbloed,Ans C.P. Wiesfeld,Arthur A.M. Wilde,Jasper J. van der Smagt,Ludolf G. Boven,Marcel M.A.M. Mannens,Irene M. van Langen,Robert M. W. Hofstra,Luuk C. Otterspoor,Pieter A. Doevendans,Luz-Maria Rodriguez,Isabelle C. Van Gelder,Richard N.W. Hauer +15 more
TL;DR: In this paper, mutations in the plakophilin-2 gene (PKP2) were found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC).
Journal ArticleDOI
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
Marielle Alders,Roselie Jongbloed,Wouter Deelen,Arthur van den Wijngaard,Pieter A. Doevendans,Folkert J. ten Cate,Vera Regitz-Zagrosek,Hans-Peter Vosberg,Irene M. van Langen,Arthur A.M. Wilde,Dennis Dooijes,Marcel M.A.M. Mannens +11 more
TL;DR: The 2373insG mutation accounts for almost one-fourth of all HCM cases in the Netherlands, which is predominantly present in the northwestern part of the country and is a founder mutation probably originating from the Netherlands.
Journal ArticleDOI
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
Paul A. van der Zwaag,Jan D. H. Jongbloed,Maarten P. van den Berg,Jasper J. van der Smagt,Roselie Jongbloed,Hennie Bikker,Robert M.W. Hofstra,J. Peter van Tintelen +7 more
TL;DR: An online database, providing information on variants in ARVD/C‐associated genes, was created and converted into the Leiden Open Variation Database (LOVD) format, a gene‐centered collection of DNA variations.
Journal ArticleDOI
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Zahurul A. Bhuiyan,Jan D. H. Jongbloed,Jasper J. van der Smagt,Paola M. Lombardi,Ans C.P. Wiesfeld,Marcel R. Nelen,Meyke Schouten,Roselie Jongbloed,Moniek G.P.J. Cox,Marleen van Wolferen,Luz M. Rodriguez,Isabelle C. Van Gelder,Hennie Bikker,Albert J. H. Suurmeijer,Maarten P. van den Berg,Marcel M.A.M. Mannens,Richard N.W. Hauer,Arthur A.M. Wilde,J. Peter van Tintelen +18 more
TL;DR: Interestingly, biallelic or digenic DSC2 and/or DSG2 mutations are frequently identified in TFC+ ARVD/C patients, suggesting that a single mutation is less likely to cause a full-blown ARV/C phenotype.
Journal ArticleDOI
Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.
Tamara T. Koopmann,Marielle Alders,Roselie Jongbloed,Silvia Guerrero,Marcel M.A.M. Mannens,Arthur A.M. Wilde,Connie R. Bezzina +6 more
TL;DR: The first large gene rearrangement consisting of a tandem duplication of 3.7 kb in KCNH2 responsible for LQTS in a Dutch family is identified, which is expected to lead to nonfunctional or severely debilitated channels, thereby decreasing I(Kr).