J. Peter van Tintelen
J. Peter van Tintelen
professor of clinical genetics
Geverifieerd e-mailadres voor umcutrecht.nl - Homepage
Geciteerd door
Geciteerd door
A sodium-channel mutation causes isolated cardiac conduction disease
HL Tan, MTE Bink-Boelkens, CR Bezzina, PC Viswanathan, ...
Nature 409 (6823), 1043-1047, 2001
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
JH Van Berlo, WG De Voogt, AJ Van Der Kooi, JP Van Tintelen, G Bonne, ...
Journal of molecular medicine 83 (1), 79-83, 2005
Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers: a European cohort study
IAW Van Rijsingen, E Arbustini, PM Elliott, J Mogensen, ...
Journal of the American College of Cardiology 59 (5), 493-500, 2012
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
JP van Tintelen, MM Entius, ZA Bhuiyan, R Jongbloed, ACP Wiesfeld, ...
Circulation 113 (13), 1650-1658, 2006
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy
JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman, H Calkins, ...
Heart rhythm 16 (11), e301-e372, 2019
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1)
AAM Wilde, RJE Jongbloed, PA Doevendans, DR Düren, RNW Hauer, ...
Journal of the American College of Cardiology 33 (2), 327-332, 1999
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of …
PA Van Der Zwaag, IAW Van Rijsingen, A Asimaki, JDH Jongbloed, ...
European journal of heart failure 14 (11), 1199-1207, 2012
Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics
B Sikkema‐Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ...
Human mutation 34 (7), 1035-1042, 2013
Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members
JA Groeneweg, A Bhonsale, CA James, AS Te Riele, D Dooijes, ...
Circulation: Cardiovascular Genetics 8 (3), 437-446, 2015
The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular …
A Medeiros-Domingo, ZA Bhuiyan, DJ Tester, N Hofman, H Bikker, ...
Journal of the American College of Cardiology 54 (22), 2065-2074, 2009
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
A Bhonsale, JA Groeneweg, CA James, D Dooijes, C Tichnell, ...
European heart journal 36 (14), 847-855, 2015
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia–associated mutations from background genetic noise
JD Kapplinger, AP Landstrom, BA Salisbury, TE Callis, GD Pollevick, ...
Journal of the American College of Cardiology 57 (23), 2317-2327, 2011
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
KY van Spaendonck-Zwarts, JP van Tintelen, DJ van Veldhuisen, ...
Circulation 121 (20), 2169-2175, 2010
Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features
ZA Bhuiyan, MP van den Berg, JP van Tintelen, MTE Bink-Boelkens, ...
Circulation 116 (14), 1569-1576, 2007
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right …
MGPJ Cox, PA van der Zwaag, C van der Werf, JJ van der Smagt, ...
Circulation 123 (23), 2690-2700, 2011
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy …
MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf, SM Harrison, S Cook, ...
Genetics in Medicine 20 (3), 351-359, 2018
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience
KY van Spaendonck‐Zwarts, IAW van Rijsingen, MP van den Berg, ...
European journal of heart failure 15 (6), 628-636, 2013
Desmin‐related myopathy
KY van Spaendonck‐Zwarts, L van Hessem, JDH Jongbloed, ...
Clinical genetics 80 (4), 354-366, 2011
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
KY van Spaendonck-Zwarts, A Posafalvi, MP van den Berg, ...
European heart journal 35 (32), 2165-2173, 2014
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
JP van Tintelen, IC Van Gelder, A Asimaki, AJH Suurmeijer, ACP Wiesfeld, ...
Heart Rhythm 6 (11), 1574-1583, 2009
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