Mariet Elting

Mariet Elting

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Mariet Elting

Mariet Elting

Publications by authors named "Mariet Elting"

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21Publications

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Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

J Med Genet 2019 Oct 30;56(10):654-661. Epub 2019 Apr 30.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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http://dx.doi.org/10.1136/jmedgenet-2018-105746DOI Listing
October 2019

A common pathomechanism in GMAP-210- and LBR-related diseases.

JCI Insight 2018 12 6;3(23). Epub 2018 Dec 6.

Department of Pediatrics, Medical Centre-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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https://insight.jci.org/articles/view/121150
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http://dx.doi.org/10.1172/jci.insight.121150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328090PMC
December 2018

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://doi.wiley.com/10.1002/mgg3.387
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http://dx.doi.org/10.1002/mgg3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014478PMC
May 2018

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

Am J Med Genet A 2016 07 25;170(7):1874-80. Epub 2016 Apr 25.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37657DOI Listing
July 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.

Hum Mutat 2013 Oct 16;34(10):1322-8. Epub 2013 Jul 16.

Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285964PMC
October 2013

Genetics of dementia: update and guidelines for the clinician.

Am J Med Genet B Neuropsychiatr Genet 2012 Sep 19;159B(6):628-43. Epub 2012 Jul 19.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32080DOI Listing
September 2012

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s10162-011-0282-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237PMC
December 2011

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Am J Med Genet A 2008 Dec;146A(23):3058-61

Department of Pediatrics, Emma Children's Hospital, AMC Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32566DOI Listing
December 2008

Aging women with polycystic ovary syndrome who achieve regular menstrual cycles have a smaller follicle cohort than those who continue to have irregular cycles.

Fertil Steril 2003 May;79(5):1154-60

Present address: Department of Clinical Genetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/s0015-0282(03)00152-3DOI Listing
May 2003