Publications by authors named "Lia Knegt"

9Publications

Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates.

Authors:
Peter Henneman Arjan Bouman Adri Mul Lia Knegt Anne-Marie van der Kevie-Kersemaekers Nitash Zwaveling-Soonawala Hanne E J Meijers-Heijboer A S Paul van Trotsenburg Marcel M Mannens

PLoS One 2018 30;13(3):e0194938. Epub 2018 Mar 30.

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

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July 2018

An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.

Authors:
Christina M Ferrer Marielle Alders Alex V Postma Seonmi Park Mark A Klein Murat Cetinbas Eva Pajkrt Astrid Glas Silvana van Koningsbruggen Vincent M Christoffels Marcel M A M Mannens Lia Knegt Jean-Pierre Etchegaray Ruslan I Sadreyev John M Denu Gustavo Mostoslavsky Merel C van Maarle Raul Mostoslavsky

Genes Dev 2018 03 19;32(5-6):373-388. Epub 2018 Mar 19.

The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, Massachusetts 02114, USA.

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March 2018

Genetic Analyses in Small-for-Gestational-Age Newborns.

Authors:
Susanne E Stalman Nita Solanky Miho Ishida Cristina Alemán-Charlet Sayeda Abu-Amero Marielle Alders Lucas Alvizi William Baird Charalambos Demetriou Peter Henneman Chela James Lia C Knegt Lydia J Leon Marcel M A M Mannens Adi N Mul Nicole A Nibbering Emma Peskett Faisal I Rezwan Carrie Ris-Stalpers Joris A M van der Post Gerdine A Kamp Frans B Plötz Jan M Wit Philip Stanier Gudrun E Moore Raoul C Hennekam

J Clin Endocrinol Metab 2018 03;103(3):917-925

Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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March 2018

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Authors:
André B P van Kuilenburg Judith Meijer Dirk Maurer Doreen Dobritzsch Rutger Meinsma Maartje Los Lia C Knegt Lida Zoetekouw Rob L H Jansen Vincent Dezentjé Lieke H van Huis-Tanja Roel J W van Kampen Jens Michael Hertz Raoul C M Hennekam

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

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March 2017

Trisomy 4 mosaicism: Delineation of the phenotype.

Authors:
Arjan Bouman Anne-Marie van der Kevie-Kersemaekers Karin Huijsdens-van Amsterdam Nordin Dahhan Lia Knegt Fleur Vansenne Jan Maarten Cobben

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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April 2016

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

Authors:
Silvana van Koningsbruggen Hennie Knoester Roel Bakx Olaf Mook Lia Knegt Jan Maarten Cobben

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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February 2016

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

Authors:
Arjan Bouman Lia Knegt Stefan Gröschel Claudia Erpelinck Mathijs Sanders Ruud Delwel Taco Kuijpers Jan Maarten Cobben

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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February 2016

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Authors:
Daniela Q C M Barge-Schaapveld Saskia M Maas Abeltje Polstra Lia C Knegt Raoul C M Hennekam

Am J Med Genet A 2011 May 4;155A(5):1066-72. Epub 2011 Apr 4.

Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands.

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May 2011

Communication with patients during the prenatal testing procedure: an explorative qualitative study.

Authors:
Myra van Zwieten Dick Willems Lia Knegt Nico Leschot

Patient Educ Couns 2006 Oct 6;63(1-2):161-8. Epub 2006 Jan 6.

Academic Medical Center, University of Amsterdam, Division Clinical Methods and Public Health, Department of General Practice, Family Medicine, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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October 2006