Marielle Alders

Summary

Publications

  1. doi request reprint Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
    Robert S de Wijn
    Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Med Genet 55:191-5. 2012
  2. ncbi request reprint Familial clustering of giant congenital melanocytic nevi
    Robert S de Wijn
    Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Centre, University of Amsterdam, The Netherlands
    J Plast Reconstr Aesthet Surg 63:906-13. 2010
  3. doi request reprint Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience
    Nynke Hofman
    Department of Clinical Genetics N H, M A, S D H, M M A M M, M P L, R H L d D, I v L, Department of Cardiology H L T, A A M W, and Department of Epidemiology, Biostatistics, and Bioinformatics I K, Academic Medical Center, Amsterdam, The Netherlands
    Circulation 128:1513-21. 2013
  4. doi request reprint A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence
    Roos F Marsman
    Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands
    J Am Coll Cardiol 63:259-66. 2014
  5. doi request reprint Sodium channelopathies: do we really understand what's going on?
    Pieter G Postema
    Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Cardiovasc Electrophysiol 22:590-3. 2011
  6. ncbi request reprint [Premature sudden death--consider serious familial heart rhythm disturbances]
    Pieter G Postema
    Academisch Medisch Centrum, afd Cardiologie, Hartfaal Centrum, Amsterdam, The Netherlands
    Ned Tijdschr Geneeskd 155:A3391. 2011
  7. ncbi request reprint Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?
    Nynke Hofman
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    J Am Coll Cardiol 55:2570-6. 2010
  8. doi request reprint An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome
    Zahurul A Bhuiyan
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    Prog Biophys Mol Biol 98:319-27. 2008
  9. ncbi request reprint Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features
    Zahurul A Bhuiyan
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands
    Circulation 116:1569-76. 2007
  10. pmc Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
    Jet Bliek
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 17:1625-34. 2009

Collaborators

Detail Information

Publications26

  1. doi request reprint Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene
    Robert S de Wijn
    Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Med Genet 55:191-5. 2012
    ..The cause of this wide intramutational phenotypic variability remains to be elucidated...
  2. ncbi request reprint Familial clustering of giant congenital melanocytic nevi
    Robert S de Wijn
    Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Centre, University of Amsterdam, The Netherlands
    J Plast Reconstr Aesthet Surg 63:906-13. 2010
    ..A polygenic paradominant inheritance best explains the clinically observed transmission pattern. Candidate genes include those influencing neural crest development and melanocyte proliferation...
  3. doi request reprint Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience
    Nynke Hofman
    Department of Clinical Genetics N H, M A, S D H, M M A M M, M P L, R H L d D, I v L, Department of Cardiology H L T, A A M W, and Department of Epidemiology, Biostatistics, and Bioinformatics I K, Academic Medical Center, Amsterdam, The Netherlands
    Circulation 128:1513-21. 2013
    ..We studied the yield of DNA testing for these syndromes using a candidate-gene approach over our 15 years of experience...
  4. doi request reprint A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence
    Roos F Marsman
    Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands
    J Am Coll Cardiol 63:259-66. 2014
    ..This study aimed to identify the genetic defect in a family with idiopathic ventricular fibrillation (IVF) manifesting in childhood and adolescence...
  5. doi request reprint Sodium channelopathies: do we really understand what's going on?
    Pieter G Postema
    Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Cardiovasc Electrophysiol 22:590-3. 2011
    ..One son who carried the ΔKPQ mutation but not the I1660V mutation did not show the expected Long-QT phenotype but, unexpectedly, showed a conduction disease/Brugada phenotype...
  6. ncbi request reprint [Premature sudden death--consider serious familial heart rhythm disturbances]
    Pieter G Postema
    Academisch Medisch Centrum, afd Cardiologie, Hartfaal Centrum, Amsterdam, The Netherlands
    Ned Tijdschr Geneeskd 155:A3391. 2011
    ..Timely recognition of persons affected allows appropriate treatment and may implicate an implantable cardioverter defibrillator...
  7. ncbi request reprint Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?
    Nynke Hofman
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    J Am Coll Cardiol 55:2570-6. 2010
    ..The purpose of this study was to investigate the follow-up and treatment of the mutation-carrying relatives of a proband with an inherited arrhythmia syndrome...
  8. doi request reprint An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome
    Zahurul A Bhuiyan
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    Prog Biophys Mol Biol 98:319-27. 2008
    ..The novel KCNQ1 mutation found in this study is very likely a founder mutation in the southern province of Saudi Arabia emphasizing its screening in the LQT population in this region...
  9. ncbi request reprint Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features
    Zahurul A Bhuiyan
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands
    Circulation 116:1569-76. 2007
    ..Additional features include baseline bradycardia and, in some patients, right ventricular fatty displacement. The clinical spectrum is expanded by the 2 families described here...
  10. pmc Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
    Jet Bliek
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 17:1625-34. 2009
    ..This finding supports the theory that a methylation error proceeds and possibly triggers the twinning process...
  11. pmc Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation
    Marielle Alders
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 84:468-76. 2009
    ..Penetrance of IVF was high; 50% of risk-haplotype carriers experienced (aborted) sudden cardiac death before the age of 58 years. We propose DPP6 as a gene for IVF and increased DPP6 expression as the likely pathogenetic mechanism...
  12. ncbi request reprint Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
    Marielle Alders
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    Nat Genet 41:1272-4. 2009
    ..Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans...
  13. ncbi request reprint Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood
    Marielle Alders
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands Electronic address
    Eur J Med Genet 57:293-7. 2014
    ..This result shows that tissue specific mosaic (epi)genetic changes, not present in blood, is the underlying defect in at least a subset of BWS patients without a molecular diagnosis after standard genetic testing...
  14. ncbi request reprint Mortality of inherited arrhythmia syndromes: insight into their natural history
    Eline A Nannenberg
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Circ Cardiovasc Genet 5:183-9. 2012
    ..The family tree mortality ratio method offers the unique possibility to study the natural history at a time when the disease was not known and patients received no treatment...
  15. ncbi request reprint Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort
    Tamara T Koopmann
    Center for Heart Failure Research, Experimental and Molecular Cardiology Group, University of Amsterdam, Amsterdam, The Netherlands
    Heart Rhythm 4:752-5. 2007
    ..Genetic heterogeneity and/or undetected SCN5A mutations, such as exon duplications and deletions, could be involved in the remaining 80% mutation-negative patients...
  16. doi request reprint PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon
    Saskia M J Hopman
    Department of Pediatric Oncology, Emma Children s Hospital Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 158:1719-23. 2012
    ..Up to this date, this mutation is the only genetic defect possibly involved in the etiology of GSP which is plausible given the known function of PTEN in angiogenic signaling...
  17. ncbi request reprint Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies
    Tamara T Koopmann
    Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Heart Rhythm 3:52-5. 2006
    ..The numerous mutations in the long QT syndrome (LQTS)-associated genes reported to date are point mutations or small insertions and deletions in coding regions or at splice junctions...
  18. ncbi request reprint Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
    Marielle Alders
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
    Hum Genet 133:1161-7. 2014
    ..We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome. ..
  19. ncbi request reprint Etiology of mental retardation in children referred to a tertiary care center: a prospective study
    Clara D M van Karnebeek
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    Am J Ment Retard 110:253-67. 2005
    ..We found that in a tertiary care center, a diagnosis can be established in 1 out of every 2 patients. Clinical history and physical examination are the most important instruments to reach a diagnosis...
  20. doi request reprint Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis
    Daan J Aan de Kerk
    Department of Experimental Immunology, Academic Medical Center AMC, Amsterdam, The Netherlands Emma Children s Hospital, AMC, Amsterdam, The Netherlands Electronic address
    Clin Immunol 149:25-31. 2013
    ..In sum, DOCK8 deficiency results in defective antibody responses and undirected plasma cell expansion in the lymph nodes, as part of a combined immunodeficiency cured by HSCT. ..
  21. doi request reprint Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype
    Jan Booij
    Department of Nuclear Medicine, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 161:102-7. 2013
    ..In addition, our novel molecular imaging data suggest that SDS patients may have a dysregulated dopaminergic system. These findings may be of relevance to increase our understanding of behavioral and cognitive deficits in SDS...
  22. doi request reprint Intellectual disability and hemizygous GPD2 mutation
    Daniela Q C M Barge-Schaapveld
    Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 161:1044-50. 2013
    ..We advocate the use of freely accessible international databases combining phenotype and genotype data using standard nomenclatures to facilitate proving pathogenicity of research data and to decrease costs of health care...
  23. doi request reprint Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands
    Christian van der Werf
    Heart Failure Research Center, Department of Cardiology, Academic Medical Center, University of Amsterdam, The Netherlands
    Heart Rhythm 7:1383-9. 2010
    ..The causes of aborted cardiac arrest (ACA) in this age group likely are similar to those in sudden cardiac death. However, there is a paucity of recent data on this topic...
  24. pmc Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis
    Marielle Alders
    Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Eur J Hum Genet 17:467-73. 2009
    ..We conclude that methylation-sensitive HRM analysis is a robust, fast, sensitive and cost effective method for methylation analysis in BWS and SRS...
  25. ncbi request reprint The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
    Marielle Alders
    Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
    Eur Heart J 24:1848-53. 2003
    ..Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode sarcomeric proteins. In this study we investigated the involvement of the sarcomeric myosin binding protein C in the Dutch HCM population...
  26. ncbi request reprint A locus for hereditary capillary malformations mapped on chromosome 5q
    Corstiaan C Breugem
    Department of Plastic, Reconstructive, and Hand Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Genet 110:343-7. 2002
    ..By defining the gene(s) responsible for capillary malformations, we will gain more insight in the pathogenesis of this disorder. It is likely that genes implicated in these familial cases may be involved in the more sporadic cases...