Publications by authors named "Bert van der Zwaag"

48Publications

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.

Obes Facts 2019 19;12(4):369-384. Epub 2019 Jun 19.

Obesity Center CGG (Centrum Gezond Gewicht), Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands,

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https://www.karger.com/Article/FullText/499978
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http://dx.doi.org/10.1159/000499978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758708PMC
February 2020

Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis.

Nephron 2019 16;142(4):351-358. Epub 2019 May 16.

Department of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands,

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http://dx.doi.org/10.1159/000499937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727320PMC
September 2020

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation.

Mol Genet Genomic Med 2019 06 4;7(6):e00632. Epub 2019 May 4.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565551PMC
June 2019

PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).

Hypertens Res 2018 Nov 12;41(11):981-988. Epub 2018 Sep 12.

Department of Genetics, Center for Molecular Medicine,University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41440-018-0094-5DOI Listing
November 2018

A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.

Eur J Pediatr 2017 Apr 10;176(4):515-519. Epub 2017 Feb 10.

Pediatric, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00431-017-2871-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352804PMC
April 2017

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.

Haematologica 2016 09 31;101(9):1018-27. Epub 2016 May 31.

School of Biochemistry, University of Bristol, UK National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Red Blood Cell Products, University of Bristol, UK

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http://dx.doi.org/10.3324/haematol.2016.146209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060018PMC
September 2016

Developmental role of the cell adhesion molecule Contactin-6 in the cerebral cortex and hippocampus.

Cell Adh Migr 2016 07 3;10(4):378-92. Epub 2016 Mar 3.

a Brain Center Rudolf Magnus , Department of Translational Neuroscience , University Medical Center Utrecht , Utrecht , The Netherlands.

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http://dx.doi.org/10.1080/19336918.2016.1155018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986711PMC
July 2016

Monocarboxylate transporter 1 deficiency and ketone utilization.

N Engl J Med 2014 Nov;371(20):1900-7

From the Division of Pediatrics, Department of Metabolic Diseases (P.M.H., G.V.), and the Division of Pediatrics, Department of Pediatric Gastroenterology (R.H.J.H.), Wilhelmina Children's Hospital, and the Center for Molecular Medicine, Department of Medical Genetics (G.R.M., M.J.G., K.D., M.H., B.Z., J.J.S., N.M.V.-D., G.H.), University Medical Center Utrecht, Utrecht, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, Amsterdam (S.F., J.P.N.R., M.T., R.J.A.W.), the Division of Pediatrics, Department of Metabolic Diseases, and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht (M.E.R.-G.), and the Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen (M.C.V.) - all in the Netherlands; the National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland (A.A.M.); the Department of Pediatric Metabolism and Nutrition, Gazi University School of Medicine, Ankara, Turkey (I.O.); and the Department of Paediatric Metabolic Medicine, Sheffield Children's Hospital, Sheffield (M.J.S.), the Department of Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London (M.C.), Chemical Pathology, Department of Laboratory Medicine, Salisbury (N.O.), and the Department of Clinical Biochemistry, Southampton General Hospital, Southampton (V.W.) - all in the United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1407778DOI Listing
November 2014

Contactins in the neurobiology of autism.

Eur J Pharmacol 2013 Nov 17;719(1-3):63-74. Epub 2013 Jul 17.

Department of Neuroscience and Pharmacology, Brain Center Rudolf Magnus, UMC Medical Center Utrecht, 3584 CG Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00142999130052
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http://dx.doi.org/10.1016/j.ejphar.2013.07.016DOI Listing
November 2013

The transcription factor Uncx4.1 acts in a short window of midbrain dopaminergic neuron differentiation.

Neural Dev 2012 Dec 8;7:39. Epub 2012 Dec 8.

Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, 37077, Germany.

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http://dx.doi.org/10.1186/1749-8104-7-39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558320PMC
December 2012

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Am J Med Genet A 2012 Jan 21;158A(1):166-73. Epub 2011 Nov 21.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34350DOI Listing
January 2012

Contactins: structural aspects in relation to developmental functions in brain disease.

Adv Protein Chem Struct Biol 2011 ;84:143-80

Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/B978-0-12-386483-3.00001-XDOI Listing
December 2011

Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.

Invest Ophthalmol Vis Sci 2010 May 3;51(5):2338-46. Epub 2009 Dec 3.

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

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http://dx.doi.org/10.1167/iovs.09-4650DOI Listing
May 2010

Contact in the genetics of autism and schizophrenia.

Trends Neurosci 2009 Feb 8;32(2):69-72. Epub 2009 Jan 8.

Rudolf Magnus Institute of Neuroscience, Department of Neuroscience and Pharmacology, University Medical Center Utrecht, P.O. Box 85060, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.tins.2008.11.002DOI Listing
February 2009

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.

Lancet Neurol 2008 Apr 3;7(4):319-26. Epub 2008 Mar 3.

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

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http://dx.doi.org/10.1016/S1474-4422(08)70048-6DOI Listing
April 2008

Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.

Brain Res Dev Brain Res 2005 Aug;158(1-2):66-71

Department of Neurology, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.devbrainres.2005.06.004DOI Listing
August 2005

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

Neurology 2003 Aug;61(3):327-33

Department of Neurology, University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1212/01.wnl.0000076484.91275.cdDOI Listing
August 2003