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Roselie Jongbloed

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Netherlands

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A van den Wijngaard; J Peter van Tintelen; Paul G A Volders; Maarten P van den Berg; Y H J M Arens; Dennis Dooijes; N Hofmann; Jan D H Jongbloed; Roselie J Jongbloed; R H Lekanne Deprez; M M A M Mannens; M Michels; M Slegtenhorst; B J M Smeets
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
Zahurul A Bhuiyan; Jan D H Jongbloed; Jasper van der Smagt; Paola M Lombardi; Ans C P Wiesfeld; Marcel Nelen; Meyke Schouten; Roselie J 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 mannens; Richard N W Hauer; Arthur A M Wilde; J Peter van Tintelen
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Markéta Bébarová; Tom O'Hara; Jan L M C Geelen; Roselie J Jongbloed; Carl Timmermans; Yvonne H Arens; Luz-Maria Rodriguez; Yoram Rudy; Paul G A Volders
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

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All Publications

2011: A van den Wijngaard; J Peter van Tintelen; Paul G A Volders; Maarten P van den Berg; Y H J M Arens; Dennis Dooijes; N Hofmann; Jan D H Jongbloed; Roselie J Jongbloed; R H Lekanne Deprez; M M A M Mannens; M Michels; M Slegtenhorst; B J M Smeets
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2011;19(7-8):344-51.
2009: Zahurul A Bhuiyan; Jan D H Jongbloed; Jasper van der Smagt; Paola M Lombardi; Ans C P Wiesfeld; Marcel Nelen; Meyke Schouten; Roselie J 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 mannens; Richard N W Hauer; Arthur A M Wilde; J Peter van Tintelen
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Circulation. Cardiovascular genetics 2009;2(5):418-27.
2008: Markéta Bébarová; Tom O'Hara; Jan L M C Geelen; Roselie J Jongbloed; Carl Timmermans; Yvonne H Arens; Luz-Maria Rodriguez; Yoram Rudy; Paul G A Volders
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
American journal of physiology. Heart and circulatory physiology 2008;295(1):H48-58.
2007: J B Saenen; Aimée D C Paulussen; Roselie J Jongbloed; Carlo L M Marcelis; R A H J Gilissen; Jeroen Aerssens; Dirk J Snyders; Adam L Raes
A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes.
Journal of molecular and cellular cardiology 2007;43(1):63-72.
2007: Paul G A Volders; Qian Zhu; Carl Timmermans; Petra M H Eurlings; Xiaoyan Su; Yvonne H Arens; Li Li; Roselie J Jongbloed; Min Xia; Luz-Maria Rodriguez; Yi Han Chen
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21.
Heart rhythm : the official journal of the Heart Rhythm Society 2007;4(4):469-75.
2007: Nynke Hofman; P G Postema; Irene M van Langen; E A Nannenberg; Marielle Alders; Roselie J Jongbloed; H J M Smeets; Arthur A M Wilde
[Genetic identification of patients and families with a long-QT syndrome: large regional differences in the result of 10 years].
Nederlands tijdschrift voor geneeskunde 2007;151(11):644-8.
2006: Rudy van Eijsden; Mike Gerards; Lars M T Eijssen; A T M Hendrickx; Roselie J Jongbloed; J H J Wokke; Rogier Q Hintzen; M Estela Rubio-Gozalbo; I F M de Coo; Egill Briem; Valeria Tiranti; H J M Smeets
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(10):620-7.
2006: J Peter van Tintelen; Mark M Entius; Zahurul A Bhuiyan; Roselie J Jongbloed; Ans C P Wiesfeld; Arthur A M Wilde; Jasper van der Smagt; Ludolf G Boven; marcel 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
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Circulation 2006;113(13):1650-8.
2006: Tamara T Koopmann; Marielle Alders; Roselie J Jongbloed; Silvia Guerrero; marcel mannens; Arthur A M Wilde; Connie R Bezzina
Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.
Heart rhythm : the official journal of the Heart Rhythm Society 2006;3(1):52-5.
2005: Aimée D C Paulussen; Adam L Raes; Roselie J Jongbloed; Ron A H J Gilissen; Arthur A M Wilde; Dirk J Snyders; H J M Smeets; Jeroen Aerssens
HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.
Cardiovascular research 2005;67(3):467-75.
2005: Tom Rossenbacker; Kanigula Mubagwa; Roselie J Jongbloed; Johan Vereecke; koenraad devriendt; Marc Gewillig; Edward Carmeliet; Désiré Collen; Hein Heidbüchel; Peter Carmeliet
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
Circulation 2005;111(8):961-8.
2004: L J A M Jacobs; Roselie J Jongbloed; F A Wijburg; J B C de Klerk; Joep P M Geraedts; JG Nijland; Hans R Scholte; I F M de Coo; H J M Smeets
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.
Journal of inherited metabolic disease 2004;27(1):47-55.
2003: Marielle Alders; Roselie J Jongbloed; Wout Deelen; Arthur van den Wijngaard; Pieter A Doevendans; Folkert J Ten Cate; Vera Regitz-Zagrosek; Hans-Peter Vosberg; Irene M van Langen; Arthur Wilde; Dennis Dooijes; marcel mannens
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
European heart journal 2003;24(20):1848-53.
2003: Xander H T Wehrens; Tom Rossenbacker; Roselie J Jongbloed; Marc Gewillig; Hein Heidbüchel; Pieter A Doevendans; Marc A Vos; Hein J J Wellens; Robert Kass
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
Human mutation 2003;21(5):552.
2003: Roselie J Jongbloed; Carlo L M Marcelis; Pieter A Doevendans; Judith M Schmeitz-Mulkens; Willem G Van Dockum; Joep P M Geraedts; H J M Smeets
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.
Journal of the American College of Cardiology 2003;41(6):981-6.
2003: Irene M van Langen; Erwin Birnie; Marielle Alders; Roselie J Jongbloed; H Le Marec; Arthur A M Wilde
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
Journal of medical genetics 2003;40(2):141-5.
2002: Roselie J Jongbloed; Carlo L M Marcelis; Crool Velter; Pieter A Doevendans; Joep P M Geraedts; H J M Smeets
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Human mutation 2002;20(5):382-91.
2002: Chantal E Conrath; Arthur A M Wilde; Roselie J Jongbloed; Marielle Alders; Irene M van Langen; J Peter van Tintelen; Pieter A Doevendans; Tobias Opthof
Gender differences in the long QT syndrome: effects of beta-adrenoceptor blockade.
Cardiovascular research 2002;53(3):770-6.
1999: Arthur A M Wilde; Roselie J Jongbloed; Pieter A Doevendans; D R Düren; Richard N W Hauer; Irene M van Langen; J Peter van Tintelen; H J M Smeets; H Meyer; JL Geelen
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).
Journal of the American College of Cardiology 1999;33(2):327-32.
1999: Roselie J Jongbloed; Arthur A M Wilde; JL Geelen; Pieter A Doevendans; C Schaap; Irene M van Langen; J Peter van Tintelen; JM Cobben; Gertie C M Beaufort-Krol; Joep P M Geraedts; H J M Smeets
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Human mutation 1999;13(4):301-10.
1998: JL Geelen; Pieter A Doevendans; Roselie J Jongbloed; Hein J J Wellens; Joep P M Geraedts
Molecular genetics of inherited long QT syndromes.
European heart journal 1998;19(10):1427-33.
1997: M H van den Berg; Arthur A M Wilde; E O Robles de Medina; H Meyer; JL Geelen; Roselie J Jongbloed; Hein J J Wellens; Joep P M Geraedts
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.
Human genetics 1997;100(3-4):356-61.