Search Results - Marcel M.A.M. Mannens

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  1. 1
    Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

    Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS by Jet Bliek, Saskia M. Maas, Jan M. Ruijter, Raoul C. M. Hennekam, Mariëlle Alders, A. Westerveld, Marcel M.A.M. Mannens

    Published 2001
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  2. 2
    The idiopathic preterm delivery methylation profile in umbilical cord blood DNA

    The idiopathic preterm delivery methylation profile in umbilical cord blood DNA by Febilla Fernando, Remco Keijser, Peter Henneman, Anne-Marie Van Der Kevie-Kersemaekers, Marcel M.A.M. Mannens, Joris van der Post, Gijs Afink, Carrie Ris‐Stalpers

    Published 2015
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  3. 3
    Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

    Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation by Zahurul A. Bhuiyan, Tarek Momenah, Qiuming Gong, Ahmad S. Amin, Saleh Al Ghamdi, J. S. Carvalho, Tessa Homfray, Marcel M.A.M. Mannens, Zhengfeng Zhou, Arthur A.M. Wilde

    Published 2008
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  4. 4
    Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

    Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia by Alex V. Postma, Isabelle Denjoy, Theo M. Hoorntje, Jean‐Marc Lupoglazoff, Antoine Da Costa, Pascale Sébillon, Marcel M.A.M. Mannens, Arthur A.M. Wilde, Pascale Guicheney

    Published 2002
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  5. 5
    Clinical utility gene card for: Beckwith–Wiedemann Syndrome

    Clinical utility gene card for: Beckwith–Wiedemann Syndrome by Thomas Eggermann, Elizabeth M. Algar, Pablo Lapunzina, Deborah Mackay, Eamonn R. Maher, Marcel M.A.M. Mannens, Irène Netchine, Dirk Prawitt, Andrea Riccio, I. Karen Temple, Rosanna Weksberg

    Published 2013
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  6. 6
    Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?

    Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? by Nynke Hofman, A. A. M. Wilde, Stefan Kääb, Irene M. van Langen, Michael W.T. Tanck, Marcel M.A.M. Mannens, Martin Hinterseer, Britt Maria Beckmann, Hanno L. Tan

    Published 2006
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  7. 7
    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

    The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative,... by Argelia Medeiros‐Domingo, Zahurul A. Bhuiyan, David J. Tester, Nynke Hofman, Hennie Bikker, J. Peter van Tintelen, Marcel M.A.M. Mannens, Arthur A.M. Wilde, Michael J. Ackerman

    Published 2009
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  8. 8
    The Human Chitotriosidase Gene

    The Human Chitotriosidase Gene by Rolf G. Boot, G. Herma Renkema, Marri Verhoek, Anneke Strijland, Jet Bliek, T.M.A.M.O. de Meulemeester, Marcel M.A.M. Mannens, Johannes M. F. G. Aerts

    Published 1998
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  9. 9
    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups by Saskia M. Maas, Fleur Vansenne, D.J. Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M.A.M. Mannens, Johannes H. M. Merks, Eamonn R. Maher, Raoul C. M. Hennekam

    Published 2016
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  10. 10
    Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

    Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options by Niels Vos, Lotte Kleinendorst, Liselot van der Laan, Jorrit van Uhm, Philip R. Jansen, Agnies M. van Eeghen, Saskia M. Maas, Marcel M.A.M. Mannens, Mieke M. van Haelst

    Published 2024
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  11. 11
    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes

    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes by Nynke Hofman, Hanno L. Tan, Mariëlle Alders, I. Kolder, Simone de Haij, Marcel M.A.M. Mannens, Maria Lombardi, Ronald H. Lekanne Deprez, Irene M. van Langen, Arthur A.M. Wilde

    Published 2013
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  12. 12
    Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair

    Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair by Mischa G. Vrouwe, Elhaam Elghalbzouri-Maghrani, Matty Meijers, Peter Schouten, Barbara C. Godthelp, Zahurul A. Bhuiyan, E. Redeker, Marcel M.A.M. Mannens, Leon H.F. Mullenders, Albert Pastink, F. Darroudi

    Published 2007
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  13. 13
    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes

    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes by Jan Maarten Cobben, I. Krzyzewska, Andrea Venema, Adri N. Mul, Abeltje M. Polstra, Alex V. Postma, Robert Śmigiel, Karolina Pesz, Jacek Nikliński, Monika Chomczyk, Peter Henneman, Marcel M.A.M. Mannens

    Published 2019
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  14. 14
    A monozygotic twin pair with highly discordant Gaucher phenotypes

    A monozygotic twin pair with highly discordant Gaucher phenotypes by M. Biegstraaten, Ivo N. van Schaik, Johannes M. F. G. Aerts, Mirjam Langeveld, Marcel M.A.M. Mannens, Lo J. Bour, Ellen Sidransky, Nahid Tayebi, E. J. Fitzgibbon, Carla E. M. Hollak

    Published 2010
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  15. 15
    Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

    Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells by Jet Bliek, Mariëlle Alders, Saskia M. Maas, Roelof‐Jan Oostra, Deborah Mackay, K. Lip, Johnatan L Callaway, Alice S. Brooks, Sandra van ‘t Padje, A. Westerveld, N. J. Leschot, Marcel M.A.M. Mannens

    Published 2009
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  16. 16
    Peripheral blood methylation profiling of female Crohn’s disease patients

    Peripheral blood methylation profiling of female Crohn’s disease patients by Andrew Y. F. Li Yim, Nicolette W. Duijvis, Jing Hua Zhao, Wouter J. de Jonge, Geert D’Haens, Marcel M.A.M. Mannens, Adri N. Mul, Anje A. te Velde, Peter Henneman

    Published 2016
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  17. 17
    Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

    Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders by Niels Vos, Sabrina M. Oussaada, Mellody I. Cooiman, Lotte Kleinendorst, Kasper W. ter Horst, Eric J. Hazebroek, Johannes A. Romijn, Mireille J. Serlie, Marcel M.A.M. Mannens, Mieke M. van Haelst

    Published 2020
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  18. 18
    Cow’s milk allergy in Dutch children: an epigenetic pilot survey

    Cow’s milk allergy in Dutch children: an epigenetic pilot survey by Nicole C. M. Petrus, Peter Henneman, Andrea Venema, Adri N. Mul, Femke van Sinderen, Martin A. Haagmans, Olaf R.F. Mook, Raoul C. M. Hennekam, A. B. Sprikkelman, Marcel M.A.M. Mannens

    Published 2016
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  19. 19
    Compound Heterozygosity for Mutations (W156X and R225W) in <i>SCN5A</i> Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

    Compound Heterozygosity for Mutations (W156X and R225W) in <i>SCN5A</i> Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System by Connie R. Bezzina, Martin B. Rook, W. Antoinette Groenewegen, Lucas J. Herfst, Allard C. van der Wal, J.N.G.P. Lam, Habo J. Jongsma, Arthur A.M. Wilde, Marcel M.A.M. Mannens

    Published 2003
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  20. 20
    Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

    Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation by Mariëlle Alders, Tamara T. Koopmann, Imke Christiaans, Pieter G. Postema, Leander Beekman, Michael W.T. Tanck, Katja Zeppenfeld, Peter Loh, Karel T. Koch, Sophie Demolombe, Marcel M.A.M. Mannens, Connie R. Bezzina, Arthur A.M. Wilde

    Published 2009
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