Jan-Maarten Cobben

Jan-Maarten Cobben

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Jan-Maarten Cobben

Jan-Maarten Cobben

Publications by authors named "Jan-Maarten Cobben"

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32Publications

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DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

Epigenomics 2019 May 15;11(7):767-785. Epub 2019 Mar 15.

Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.2217/epi-2018-0221DOI Listing
May 2019

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Mol Genet Metab Rep 2018 Dec 13;17:19-21. Epub 2018 Sep 13.

Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138878PMC
December 2018

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

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome.

Birth Defects Res A Clin Mol Teratol 2016 Jul 15;106(7):573-9. Epub 2016 Mar 15.

Department of Pediatrics and Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/bdra.23497DOI Listing
July 2016

[An infant with an asymmetric mouth when crying or laughing].

Ned Tijdschr Geneeskd 2015 ;159:A8873

Flevoziekenhuis, afd. Kindergeneeskunde, Almere.

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April 2016

Trisomy 4 mosaicism: Delineation of the phenotype.

Am J Med Genet A 2016 Apr 20;170A(4):1040-5. Epub 2016 Jan 20.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37522DOI Listing
April 2016

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

Am J Med Genet A 2016 Feb 10;170A(2):504-509. Epub 2015 Nov 10.

Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37451DOI Listing
February 2016

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

Am J Med Genet A 2016 Feb 24;170A(2):510-514. Epub 2015 Nov 24.

Department of Pediatric Genetics, AMC University Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37453DOI Listing
February 2016

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Eur J Hum Genet 2015 Nov 20;23(11). Epub 2015 May 20.

Institute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613485PMC
November 2015

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Am J Med Genet A 2015 Sep 31;167A(9):1983-92. Epub 2015 May 31.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37154DOI Listing
September 2015

[A girl with Angelman syndrome].

Ned Tijdschr Geneeskd 2014 ;158:A8092

AMC, afd. Kindergeneeskunde, Amsterdam.

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June 2015

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.

Am J Med Genet A 2013 Feb 9;161A(2):254-60. Epub 2013 Jan 9.

Department of Pediatric Genetics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35672DOI Listing
February 2013

Dysmorphic features in 2-year-old IVF/ICSI offspring.

Early Hum Dev 2012 Oct 12;88(10):823-9. Epub 2012 Jul 12.

Dept. Pediatrics, Div. Developmental Neurology, University Medical Center Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.earlhumdev.2012.06.002DOI Listing
October 2012

Clinical utility gene card for: proximal spinal muscular atrophy.

Eur J Hum Genet 2012 Jun 18;20(6). Epub 2012 Apr 18.

Institute of Human Genetics, Medical Faculty, RWTH Aachen, Aachen, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355269PMC
June 2012

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.

J Neurol Neurosurg Psychiatry 2011 Aug 15;82(8):850-2. Epub 2010 Jun 15.

Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jnnp.2009.200253DOI Listing
August 2011

Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.

Pediatr Neurol 2011 Apr;44(4):303-7

Department of Paediatric Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.11.015DOI Listing
April 2011

Ectrodactyly with fibular aplasia: a separate entity?

Eur J Med Genet 2008 Sep-Oct;51(5):488-96. Epub 2008 May 2.

Department of Paediatric Genetics, Emma Children's Hospital/Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.001DOI Listing
November 2008

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.

Am J Med Genet A 2008 Mar;146A(6):740-4

Department of Pediatric Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32233DOI Listing
March 2008

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

Brain 2007 Sep 9;130(Pt 9):2258-66. Epub 2007 Aug 9.

Department of Pediatric Neurology, Emma Children's Hospital/AMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1093/brain/awm188DOI Listing
September 2007

Normal values for morphological abnormalities in school children.

Am J Med Genet A 2006 Oct;140(19):2091-109

Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31355DOI Listing
October 2006