Marcel M.A.M. Mannens mainly focuses on Genetics, Internal medicine, Cardiology, Chromosome and Endocrinology. His study in Mutation, Breakpoint, Gene, Genomic imprinting and Loss of heterozygosity is carried out as part of his studies in Genetics. His primary area of study in Internal medicine is in the field of Sudden death.
Many of his research projects under Cardiology are closely connected to Catecholaminergic polymorphic ventricular tachycardia with Catecholaminergic polymorphic ventricular tachycardia, tying the diverse disciplines of science together. His Chromosome research focuses on Gene duplication and how it connects with Sequence analysis, Exon, RNA splicing and Complementary DNA. His Endocrinology study incorporates themes from Penetrance and QT interval.
Genetics, Gene, Internal medicine, Chromosome and DNA methylation are his primary areas of study. He focuses mostly in the field of Genetics, narrowing it down to matters related to Molecular biology and, in some cases, Exon. The various areas that Marcel M.A.M. Mannens examines in his Internal medicine study include Endocrinology and Cardiology.
When carried out as part of a general Cardiology research project, his work on Tachycardia is frequently linked to work in Catecholaminergic polymorphic ventricular tachycardia and Ryanodine receptor 2, therefore connecting diverse disciplines of study. Marcel M.A.M. Mannens has included themes like Genetic marker, Locus, Gene duplication and Wilms' tumor in his Chromosome study. His DNA methylation research integrates issues from Methylation, Epigenetics, Immunology and Bioinformatics.
His primary scientific interests are in DNA methylation, Epigenetics, Genetics, Bioinformatics and Gene. His DNA methylation study combines topics from a wide range of disciplines, such as Internal medicine, Cohort, Methylation and Mendelian disorders. His Internal medicine research integrates issues from Sanger sequencing, Endocrinology and Oncology.
Marcel M.A.M. Mannens merges Genetics with TXNIP in his study. The concepts of his Bioinformatics study are interwoven with issues in DNA sequencing, Post hoc, dNaM and Likely pathogenic. His research investigates the connection with Gene and areas like Immunology which intersect with concerns in Pulmonary disease, Expression data and Single-nucleotide polymorphism.
Marcel M.A.M. Mannens focuses on DNA methylation, Epigenetics, Cohort, Differentially methylated regions and Genetics. He has included themes like genomic DNA, Bioinformatics, Internal medicine, Computational biology and Mendelian inheritance in his DNA methylation study. His research investigates the connection between Bioinformatics and topics such as Endocrinology that intersect with problems in Genome-wide association study.
His Internal medicine study incorporates themes from Sanger sequencing, Locus, SNP and Oncology. His work deals with themes such as Chromosome 21, Methylation, Down syndrome and Epigenetic Profile, which intersect with Differentially methylated regions. The Genetics study combines topics in areas such as Body mass index and Type 2 diabetes.
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Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome
Chloé Bellocq;Antoni C.G. van Ginneken;Connie R. Bezzina;Mariel Alders.
Cardiac conduction defects associate with mutations in SCN5A.
J. J. Schott;C. Alshinawi;F. Kyndt;V. Probst.
Nature Genetics (1999)
Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia
Alex V. Postma;Isabelle Denjoy;Theo M. Hoorntje;Jean-Marc Lupoglazoff.
Circulation Research (2002)
The human chitotriosidase gene - Nature of inherited enzyme deficiency
R.G. Boot;G.H. Renkema;M. Verhoek;A. Strijland.
Journal of Biological Chemistry (1998)
The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome A Comprehensive Open Reading Frame Mutational Analysis
Argelia Medeiros-Domingo;Zahurul A. Bhuiyan;David J. Tester;Nynke Hofman.
Journal of the American College of Cardiology (2009)
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.
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Marielle Alders;Benjamin M. Hogan;Evisa Gjini;Faranak Salehi.
Nature Genetics (2009)
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
A. V. Postma;I. Denjoy;J. Kamblock;M. Alders.
Journal of Medical Genetics (2005)
CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and first results
E.T. Van der Velde;J.W.J. Vriend;M.M.A.M. Mannens;C.S.P.M. Uiterwaal.
European Journal of Epidemiology (2005)
Expanding Spectrum of Human RYR2-Related Disease. New Electrocardiographic, Structural, and Genetic Features
Zahurul A. Bhuiyan;Maarten P. van den Berg;J. Peter van Tintelen;Margreet T.E. Bink-Boelkens.
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