Marleen Simon

Marleen Simon

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Marleen Simon

Marleen Simon

Publications by authors named "Marleen Simon"

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31Publications

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause.

J Clin Endocrinol Metab 2014 Apr 13;99(4):1107-11. Epub 2014 Jan 13.

Department of Internal Medicine (N.C.-O., L.O., M.C.Z.), Erasmus MC, 3015 CE Rotterdam, The Netherlands; Department of Human Genetics (L.H.H.), Radboud Medical Center, 6500 HC Nijmegen, The Netherlands; Department of Internal Medicine (R.M.K.), Albert Schweitzer Hospital, 3318 AT Dordrecht, The Netherlands; and Departments of Ophthalmology (C.C.W.K.) and Clinical Genetics (M.E.H.S.), Erasmus MC, 3015 CE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2013-3238DOI Listing
April 2014

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

Am J Med Genet A 2012 Feb 2;158A(2):292-7. Epub 2011 Dec 2.

Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.

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http://www.researchgate.net/profile/Gretel_Oudesluijs/public
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http://doi.wiley.com/10.1002/ajmg.a.34396
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http://dx.doi.org/10.1002/ajmg.a.34396DOI Listing
February 2012

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. Epub 2011 Jul 1.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.10-7128DOI Listing
July 2011

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.

Am J Med Genet A 2007 Nov;143A(22):2712-5

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32008DOI Listing
November 2007