Ingrid van Laar

Ingrid van de Laar

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Ingrid van Laar

Ingrid van de Laar

Publications by authors named "Ingrid van de Laar"

42Publications

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1PubMed Central Citations

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

Psychological well-being in patients with aneurysms-osteoarthritis syndrome.

Am J Med Genet A 2019 Aug 27;179(8):1491-1497. Epub 2019 May 27.

Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61209
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http://dx.doi.org/10.1002/ajmg.a.61209DOI Listing
August 2019

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2019 Feb 28;16(2):220-228. Epub 2018 Aug 28.

AMC Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.08.025DOI Listing
February 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

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

Aortic Dimensions and Clinical Outcome in Patients With SMAD3 Mutations.

Circ Genom Precis Med 2018 11;11(11):e002329

Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (A.T.v.d.H., L.R.B., A.E.v.d.B., D.v.d.L., J.W.R.-H.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002329DOI Listing
November 2018

[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].

Ned Tijdschr Geneeskd 2013 ;157(21):A5588

Erasmus MC, Afd. Cardiologie, Rotterdam, the Netherlands.

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July 2013

[22q11.2 deletion syndrome diagnosed in an adult male].

Ned Tijdschr Geneeskd 2011 ;155(40):A3644

Erasmus Medisch Centrum, Afd. Interne Geneeskunde, Rotterdam, the Netherlands.

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May 2013

Saccular aneurysm within a persistent ductus arteriosus.

Lancet 2012 Feb 15;379(9816):e33. Epub 2011 Dec 15.

Department of Cardiology, Erasmus Medical Centre, Rotterdam, Netherlands.

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http://dx.doi.org/10.1016/S0140-6736(11)61352-4DOI Listing
February 2012

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Cardiovasc Res 2010 Oct 2;88(1):130-9. Epub 2010 Jun 2.

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvq178DOI Listing
October 2010

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

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Eur J Med Genet 2007 Mar-Apr;50(2):112-9. Epub 2006 Nov 3.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.006DOI Listing
May 2007

Familial gigantism caused by an NSD1 mutation.

Am J Med Genet A 2005 Nov;139(1):40-4

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

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http://dx.doi.org/10.1002/ajmg.a.30973DOI Listing
November 2005

Cerebral oxygen saturation and electrical brain activity before, during, and up to 36 hours after arterial switch procedure in neonates without pre-existing brain damage: its relationship to neurodevelopmental outcome.

Exp Brain Res 2005 Sep 7;165(3):343-50. Epub 2005 Jun 7.

Department of Neonatology, KE 04.123.1, University Medical Center Utrecht/ Wilhelmina Children's Hospital, P.B. 85090, 3508 Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00221-005-2300-3DOI Listing
September 2005