M. Mannens

发表

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

F. Baas, R. L. Lekanne Deprez, N. Hofman, 2013, Journal of Medical Genetics.

Homozygous premature truncation of the HERG protein : the human HERG knockout.

A. Wilde, T. Hoorntje, N. Sreeram, 1999, Circulation.

Oxytocin receptor gene methylation in male and female PTSD patients and trauma-exposed controls

D. Veltman, S. Koch, M. Olff, 2019, European Neuropsychopharmacology.

The importance of DNA analysis in sporadic aniridia

M. Mannens, E. Bleeker-Wagemakers, M. Mäntyjärvi, 1993, Acta ophthalmologica.

The distal region of 11p13 and associated genetic diseases.

C. Junien, G. Saunders, B. Williams, 1991, Genomics.

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

A. Wilde, P. Guicheney, M. Alders, 2005, Journal of Medical Genetics.

Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics

M. Alders, M. Mannens, P. Henneman, 2022, Frontiers in Genetics.

follow up of the patients tachycardia: RYR2 mutations, bradycardia, and Catecholaminergic polymorphic ventricular

P. Guicheney, M. Alders, I. Denjoy, 2006 .

Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.

M. Hayden, J. Kastelein, D. Erkelens, 1998, American journal of medical genetics.

A Dominant Negative Isoform of the Long QT Syndrome 1 Gene Product*

A. Wilde, D. Escande, S. Demolombe, 1998, The Journal of Biological Chemistry.

Mutation update for the PORCN gene

R. Hennekam, J. Celli, R. Śmigiel, 2011, Human mutation.

Post-Pacing Abnormal Repolarization in Catecholaminergic Polymorphic Ventricular Tachycardia Associated with a Mutation in the Cardiac Ryanodine Receptor Gene (RyR2)

S. Viskin, C. Antzelevitch, A. Wilde, 2011 .

Introduction to molecular genetics

M. Mannens, H. Smeets, 2011 .

Cytogenetic and molecular analysis of cellular atypical mesoblastic nephroma

F. Speleman, E. van den Berg, R. Tamminga, 1998, Genes, chromosomes & cancer.

Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases

L. Smeeth, A. Adeyemo, C. Agyemang, 2021, NPJ genomic medicine.

Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2.

P F Little, Y. Nakamura, K. Davies, 1997, Genomics.

Imprinting and Beckwith-Wiedemann syndrome

M. Mannens, J. Hoovers, A. Dietrich, 1992, The Lancet.

A case of methemoglobinemia type II due to NADH‐cytochrome b5 reductase deficiency: Determination of the molecular basis

R. Wanders, G. Salieb-Beugelaar, C. Aalfs, 2000, Human mutation.

Molecular Genetics in Cardiology

M. Mannens, H. Smeets, 2001 .

A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14‐p22

A. Wilde, L. Al-Gazali, Z. Bhuiyan, 2007, Journal of cardiovascular electrophysiology.

Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

Y. Pinto, A. Wilde, R. D. de Boer, 2017, European journal of heart failure.

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

A. Moorman, M. Alders, A. Postma, 2013, Journal of Medical Genetics.

The Human Chitotriosidase Gene

J. M. Aerts, M. Mannens, M. Mannens, 1998, The Journal of Biological Chemistry.

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

R. Hennekam, P. Hammond, P. Hammond, 2005, Journal of Medical Genetics.

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

R. Hennekam, T. Prescott, L. Al-Gazali, 2009, Nature Genetics.

Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.

I. V. Van Gelder, A. Wilde, M. Rook, 1999, Cardiovascular research.

Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours

C. Heyting, P. Pearson, M. Mannens, 1988, Human Genetics.

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

I. Temple, M. Cubellis, F. Lalatta, 2009, European Journal of Human Genetics.

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

Y. Fukushima, W. Bickmore, S. Boyle, 1995, Human molecular genetics.

Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.

A. Kelsey, M. Little, M. Mannens, 1993, Human molecular genetics.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event

C. Junien, P. Landrieu, M. Mannens, 1993, European journal of human genetics : EJHG.

Unravelling the genetic basis of hereditary disorders by high-throughput exome sequencing strategies

Birgit, M. Swertz, R. Sinke, 2016 .

The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

F. Bemelman, C. Hollak, M. Mannens, 2007, Journal of Inherited Metabolic Disease.

A single Na(+) channel mutation causing both long-QT and Brugada syndromes.

A. Wilde, M. P. van den Berg, C. Bezzina, 1999, Circulation research.

Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.

A. Feinberg, P. Little, A. Westerveld, 2000, American journal of human genetics.

Further delineation of the partial proximal trisomy 10q syndrome.

R. Hennekam, C. Aalfs, M. Mannens, 1995, Journal of Medical Genetics.

CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and first results

B. Mulder, C. Uiterwaal, M. Mannens, 2005, European Journal of Epidemiology.

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.

Michael J Ackerman, J Peter van Tintelen, Hennie Bikker, 2009, Journal of the American College of Cardiology.

Properdin deficiency: molecular basis and disease association.

L. Truedsson, A. Sjöholm, M. Daha, 1999, Molecular immunology.

Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.

M. Mannens, M. Mannens, E. Redeker, 2006, Genetic testing.

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

S. Snijder, M. Alders, M. Mannens, 2009, European journal of medical genetics.

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

A. Wilde, P. Postema, M. Mannens, 2010, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features

A. Wilde, M. P. van den Berg, A. Wilde, 2007, Circulation.

Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

Lucas J Herfst, H. Jongsma, C. Bezzina, 2003, Circulation research.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

J. M. Aerts, R. Wevers, C. Hollak, 2012, Molecular genetics and metabolism.

Human Mutation MUTATION UPDATE Mutation Update for the PORCN Gene

R. Hennekam, J. Celli, R. Śmigiel, 2011 .

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

M. P. van den Berg, P. Volders, R. L. Lekanne Deprez, 2011, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.