Gijs van Haaften

Gijs van Haaften

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Gijs van Haaften

Gijs van Haaften

Publications by authors named "Gijs van Haaften"

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Glibenclamide and HMR1098 normalize Cantú syndrome-associated gain-of-function currents.

J Cell Mol Med 2019 Aug 22;23(8):4962-4969. Epub 2019 May 22.

Division of Heart and Lungs, Department of Medical Physiology, University Medical Center Utrecht, Utrecht, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/jcmm.14329
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http://dx.doi.org/10.1111/jcmm.14329DOI Listing
August 2019

Natural helix 9 mutants of PPARγ differently affect its transcriptional activity.

Mol Metab 2019 02 16;20:115-127. Epub 2018 Dec 16.

Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.molmet.2018.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358588PMC
February 2019

A Single Complex Allele in a Patient With Partial Lipodystrophy.

Front Physiol 2018 26;9:1363. Epub 2018 Sep 26.

Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands.

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http://dx.doi.org/10.3389/fphys.2018.01363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168662PMC
September 2018

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Clin Dysmorphol 2018 Jul;27(3):78-83

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.

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http://dx.doi.org/10.1097/MCD.0000000000000219DOI Listing
July 2018

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

The ontogeny of Robin sequence.

Am J Med Genet A 2018 06 25;176(6):1349-1368. Epub 2018 Apr 25.

Royal Children's Hospital, Murdoch Children's Research Institute, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38718DOI Listing
June 2018

Further delineation of the GDF6 related multiple synostoses syndrome.

Am J Med Genet A 2018 01 12;176(1):225-229. Epub 2017 Nov 12.

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

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http://dx.doi.org/10.1002/ajmg.a.38503DOI Listing
January 2018

Clinical utility gene card for: Cantú syndrome.

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

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/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
April 2017

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet 2015 Oct 17;97(4):621-6. Epub 2015 Sep 17.

Department of Medical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596913PMC
October 2015

Further confirmation of the MED13L haploinsufficiency syndrome.

Eur J Hum Genet 2015 Jan 30;23(1):135-8. Epub 2014 Apr 30.

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

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http://www.nature.com/articles/ejhg201469
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http://dx.doi.org/10.1038/ejhg.2014.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266749PMC
January 2015

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Acta Neuropathol Commun 2014 Dec 5;2:148. Epub 2014 Dec 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1186/s40478-014-0148-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271450PMC
December 2014

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

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Hum Mutat 2014 Jul 6;35(7):809-13. Epub 2014 May 6.

Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.22555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277879PMC
July 2014

A versatile microsatellite instability reporter system in human cells.

Nucleic Acids Res 2013 Sep 16;41(16):e158. Epub 2013 Jul 16.

Department of Toxicogenetics, Leiden University Medical Center, Leiden 2333 ZC, The Netherlands and Division of Gene Regulation, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkt615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763563PMC
September 2013

Rapid prenatal testing using semiconductor sequencing?

Authors:
Gijs van Haaften

Clin Chem 2013 May 7;59(5):735-6. Epub 2013 Mar 7.

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http://dx.doi.org/10.1373/clinchem.2013.203299DOI Listing
May 2013

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.

Metallomics 2012 Jul 4;4(7):606-13. Epub 2012 May 4.

Department of Metabolic Diseases, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1039/c2mt20034aDOI Listing
July 2012

The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.

Cell 2012 Apr 12;149(3):538-53. Epub 2012 Apr 12.

Division of Gene Regulation, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cell.2012.03.022DOI Listing
April 2012

Tumorigenicity of the miR-17-92 cluster distilled.

Genes Dev 2010 Jan;24(1):1-4

Division of Gene Regulation, The Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands.

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http://dx.doi.org/10.1101/gad.1887110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802185PMC
January 2010

RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans.

EMBO J 2007 Dec 8;26(24):5083-92. Epub 2007 Nov 8.

Department of Physiological Chemistry, Centre for Biomedical Genetics, UMC Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/sj.emboj.7601922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2140109PMC
December 2007

Identification of conserved pathways of DNA-damage response and radiation protection by genome-wide RNAi.

Curr Biol 2006 Jul;16(13):1344-50

Hubrecht Laboratory, Center for Biomedical Genetics, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.cub.2006.05.047DOI Listing
July 2006

Genomic instability and cancer: scanning the Caenorhabditis elegans genome for tumor suppressors.

Oncogene 2004 Nov;23(51):8366-75

Hubrecht Laboratory, Center for Biomedical Genetics, Uppsalalaan 8, Utrecht 3584 CT, The Netherlands.

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http://dx.doi.org/10.1038/sj.onc.1208011DOI Listing
November 2004

Gene interactions in the DNA damage-response pathway identified by genome-wide RNA-interference analysis of synthetic lethality.

Proc Natl Acad Sci U S A 2004 Aug 23;101(35):12992-6. Epub 2004 Aug 23.

Hubrecht Laboratory, Center for Biomedical Genetics, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0403131101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC516506PMC
August 2004

Genome-wide RNA interference screen identifies previously undescribed regulators of polyglutamine aggregation.

Proc Natl Acad Sci U S A 2004 Apr 14;101(17):6403-8. Epub 2004 Apr 14.

Division of Functional Genomics, Hubrecht Laboratories/Netherlands Institute for Developmental Biology, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0307697101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC404057PMC
April 2004