Affiliation: University Medical Center Utrecht
Country: The Netherlands
- Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypesHilgo Bruining
Department of Children and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
PLoS ONE 5:e10887. 2010..Here, a first attempt is made to assess whether genetically more homogeneous ASD groups are associated with decreased phenotypic heterogeneity with respect to their autistic symptom profile...
- Genetic Mapping in Mice Reveals the Involvement of Pcdh9 in Long-Term Social and Object Recognition and Sensorimotor DevelopmentHilgo Bruining
Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands Electronic address
Biol Psychiatry 78:485-95. 2015..Here, we analyzed genetic contributions to single-trial, long-term social and nonsocial recognition and subsequently studied the functional impact of an identified candidate gene on behavioral development...
- Paradoxical Benzodiazepine Response: A Rationale for Bumetanide in Neurodevelopmental Disorders?Hilgo Bruining
Departments of Translational Neuroscience, Psychiatry, and
Pediatrics 136:e539-43. 2015..This case highlights that a paradoxical behavioral response to GABA-enforcing drugs may constitute a framework for targeted treatment with bumetanide. ..
- Behavioral signatures related to genetic disorders in autismHilgo Bruining
Brain Center Rudolf Magnus, Department of Psychiatry, University Medical Center, Postbus 85500, Heidelberglaan 100 3508 GA, Utrecht, The Netherlands
Mol Autism 5:11. 2014..Autism spectrum disorder (ASD) is well recognized to be genetically heterogeneous. It is assumed that the genetic risk factors give rise to a broad spectrum of indistinguishable behavioral presentations...
- Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndromeHilgo Bruining
University Medical Centre Utrecht, Department of Child and Adolescent Psychiatry, Heidelberglaan 100, Postbus 85500, 3508 GA, Utrecht, Netherlands
Pediatrics 123:e865-70. 2009..To our knowledge, the only data available are from psychiatric inventories of adults with Klinefelter syndrome...
- The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndromeHilgo Bruining
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
Biol Psychiatry 68:1156-62. 2010..Here, we investigated whether the parent-of-origin of the supernumerary X chromosome influences autistic and schizotypal symptom profiles in KS...
- In search for significant cognitive features in Klinefelter syndrome through cross-species comparison of a supernumerary X chromosomeH Bruining
Department of Psychiatry Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University of Utrecht, The Netherlands
Genes Brain Behav 10:658-62. 2011..Similar cross-species evaluations of standard mouse behavioral paradigms in different genetic contexts may be powerful tools to optimize genotype-phenotype relationships...
- Limited impact of Cntn4 mutation on autism-related traits in developing and adult C57BL/6J miceRemco T Molenhuis
Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands
J Neurodev Disord 8:6. 2016..Here, we used our recently established developmental test battery to characterize the consequences of disruption of contactin 4 (Cntn4) on neurological, sensory, cognitive, and behavioral phenotypes across different developmental stages...
- Sex-dependent novelty response in neurexin-1α mutant miceMarijke C Laarakker
Department of Neurosciences and Pharmacology, Division of Neuroscience, Rudolf Magnus Institute, University Medical Center Utrecht, The Netherlands
PLoS ONE 7:e31503. 2012..However, this effect was mainly observed in male mice, strongly suggesting that gender-specific mechanisms play an important role in Nrxn1α-induced phenotypes...