Marjon van Slegtenhorst

Marjon van Slegtenhorst

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Marjon van Slegtenhorst

Marjon van Slegtenhorst

Publications by authors named "Marjon van Slegtenhorst"

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Variants in DOCK3 cause developmental delay and hypotonia.

Eur J Hum Genet 2019 Aug 11;27(8):1225-1234. Epub 2019 Apr 11.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/s41431-019-0397-2DOI Listing
August 2019

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circ Genom Precis Med 2019 Mar;12(3):e002395

Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.118.002395DOI Listing
March 2019

Effect of Gender and Genetic Mutations on Outcomes in Patients With Hypertrophic Cardiomyopathy.

Am J Cardiol 2018 12 8;122(11):1947-1954. Epub 2018 Sep 8.

Department of Cardiology, Thoraxcenter, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.amjcard.2018.08.040DOI Listing
December 2018

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Circ Genom Precis Med 2018 12;11(12):e002397

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.M.A.V., M.v.d.B., S.K., I.M.B.H.v.d.L., M.A.v.S., M.W.W.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002397DOI Listing
December 2018

[Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].

Ned Tijdschr Geneeskd 2018 11 26;162. Epub 2018 Nov 26.

Erasmus MC, afd. Klinische Genetica, Rotterdam.

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November 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2018 04;11(4):e001896

Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., S.J.B., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.117.001896DOI Listing
April 2018

Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.

Neurobiol Dis 2017 Dec 5;108:298-306. Epub 2017 Sep 5.

Centre for Integrative Physiology, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, United Kingdom; Simonds Initiative for the Developing Brain, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.08.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673032PMC
December 2017

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.

Circ Cardiovasc Genet 2017 Aug;10(4)

From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001660DOI Listing
August 2017

Delayed and decreased LV untwist and unstrain rate in mutation carriers for hypertrophic cardiomyopathy.

Eur Heart J Cardiovasc Imaging 2017 Apr;18(4):383-389

Department of Cardiology, The Thoraxcenter, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1093/ehjci/jew213DOI Listing
April 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy.

Am J Cardiol 2016 09 27;118(6):881-887. Epub 2016 Jun 27.

Department of Cardiology, Thoraxcenter, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.amjcard.2016.06.038DOI Listing
September 2016

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Neurology 2016 Mar 3;86(9):877-8. Epub 2016 Feb 3.

From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.

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http://www.neurology.org/content/early/2016/02/03/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000242
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http://dx.doi.org/10.1212/WNL.0000000000002422DOI Listing
March 2016

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.

Pflugers Arch 2014 Aug 2;466(8):1619-33. Epub 2013 Nov 2.

Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00424-013-1391-0DOI Listing
August 2014

Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.

Cardiovasc Res 2014 Jul 16;103(2):248-57. Epub 2014 May 16.

Department of Physiology, Institute for Cardiovascular Research (ICaR-VU), VU University Medical Center, Amsterdam, The Netherlands ICIN Netherlands Heart Institute, Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvu127DOI Listing
July 2014

Diastolic abnormalities in normal phenotype hypertrophic cardiomyopathy gene carriers: a study using speckle tracking echocardiography.

Echocardiography 2013 May 10;30(5):558-63. Epub 2012 Dec 10.

Department of Cardiology, The Thoraxcenter, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/echo.12076DOI Listing
May 2013

Pas1, a G1 cyclin, regulates amino acid uptake and rescues a delay in G1 arrest in Tsc1 and Tsc2 mutants in Schizosaccharomyces pombe.

Hum Mol Genet 2005 Oct 22;14(19):2851-8. Epub 2005 Aug 22.

Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, PA 19111, USA.

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http://academic.oup.com/hmg/article/14/19/2851/617473/Pas1-a
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http://dx.doi.org/10.1093/hmg/ddi317DOI Listing
October 2005

Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe.

J Biol Chem 2004 Mar 12;279(13):12706-13. Epub 2004 Jan 12.

Department of Medical Oncology, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA 19111, USA.

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http://dx.doi.org/10.1074/jbc.M313874200DOI Listing
March 2004