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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
8351999
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
8342004
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
7871999
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
5071998
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
4312006
The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventriculará…
A Medeiros-Domingo, ZA Bhuiyan, DJ Tester, N Hofman, H Bikker, ...
Journal of the American College of Cardiology 54 (22), 2065-2074, 2009
3752009
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
3602009
Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes iná…
CR Bezzina, MB Rook, WA Groenewegen, LJ Herfst, AC van der Wal, ...
Circulation research 92 (2), 159-168, 2003
3112003
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
2972005
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
2831999
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
2782007
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
2682009
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
2622005
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
2452006
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 forá…, 2007
2372007
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
2142003
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