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Marcel Mannens
Marcel Mannens
Hoogleraar genoomdiagnostiek in het bijzonder epigenetica van ziekten
Verified email at amsterdamumc.nl - Homepage
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Cited by
Year
A Single Na+ Channel Mutation Causing Both Long-QT and Brugada Syndromes
C Bezzina, MW Veldkamp, MP van den Berg, AV Postma, MB Rook, ...
Circulation research 85 (12), 1206-1213, 1999
8321999
Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome
C Bellocq, ACG van Ginneken, CR Bezzina, M Alders, D Escande, ...
Circulation 109 (20), 2394-2397, 2004
8252004
Cardiac conduction defects associate with mutations in SCN5A
JJ Schott, C Alshinawi, F Kyndt, V Probst, TM Hoorntje, M Hulsbeek, ...
Nature genetics 23 (1), 20-21, 1999
7831999
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia
AV Postma, I Denjoy, TM Hoorntje, JM Lupoglazoff, A Da Costa, ...
Circulation research 91 (8), e21-e26, 2002
5072002
The human chitotriosidase gene: nature of inherited enzyme deficiency
RG Boot, GH Renkema, M Verhoek, A Strijland, J Bliek, ...
Journal of Biological Chemistry 273 (40), 25680-25685, 1998
5001998
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
4292006
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
3722009
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
AV Postma, I Denjoy, J Kamblock, M Alders, JM Lupoglazoff, G Vaksmann, ...
Journal of medical genetics 42 (11), 863-870, 2005
3662005
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
M Alders, BM Hogan, E Gjini, F Salehi, L Al-Gazali, EA Hennekam, ...
Nature genetics 41 (12), 1272-1274, 2009
3562009
Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in …
CR Bezzina, MB Rook, WA Groenewegen, LJ Herfst, AC van der Wal, ...
Circulation research 92 (2), 159-168, 2003
3082003
CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results
ET Vander Velde, JWJ Vriend, M Mannens, C Uiterwaal, R Brand, ...
European journal of epidemiology 20, 549-557, 2005
2962005
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
MB Rook, C Bezzina Alshinawi, WA Groenewegen, IC van Gelder, ...
Cardiovascular research 44 (3), 507-517, 1999
2821999
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
2762007
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
J Bliek, G Verde, J Callaway, SM Maas, A De Crescenzo, A Sparago, ...
European Journal of Human Genetics 17 (5), 611-619, 2009
2662009
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
J Fantes, B Redeker, M Breen, S Boyle, J Brown, J Fletcher, S Jones, ...
Human molecular genetics 4 (3), 415-422, 1995
2631995
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families
JPP Smits, TT Koopmann, R Wilders, MW Veldkamp, T Opthof, ...
Journal of molecular and cellular cardiology 38 (6), 969-981, 2005
2602005
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
J Bliek, P Terhal, MJ van den Bogaard, S Maas, B Hamel, ...
The American journal of human genetics 78 (4), 604-614, 2006
2442006
The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels
AC Vedder, GE Linthorst, MJ Van Breemen, JEM Groener, FJ Bemelman, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007
2332007
Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours
M Mannens, RM Slater, C Heyting, J Bliek, J De Kraker, N Coad, ...
Human genetics 81, 41-48, 1988
2301988
A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization
CR Bezzina, AO Verkerk, A Busjahn, A Jeron, J Erdmann, TT Koopmann, ...
Cardiovascular research 59 (1), 27-36, 2003
2132003
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