Publications by authors named "Beatrice Oneda"

26Publications

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Mol Genet Genomic Med 2020 Aug 3:e1409. Epub 2020 Aug 3.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1002/mgg3.1409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549565PMC
August 2020

High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability.

J Neural Transm (Vienna) 2020 01 14;127(1):81-94. Epub 2019 Dec 14.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry Zurich, University of Zurich, Wagistrasse 12, 8952, Schlieren, Switzerland.

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http://dx.doi.org/10.1007/s00702-019-02114-9DOI Listing
January 2020

Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways.

Am J Med Genet B Neuropsychiatr Genet 2020 03 19;183(2):140-151. Epub 2019 Nov 19.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.b.32770DOI Listing
March 2020

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.

BMC Med Genomics 2017 11 28;10(1):68. Epub 2017 Nov 28.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Hospital of Psychiatry Zurich, University of Zurich, Neumünsterallee 9, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/s12920-017-0299-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704537PMC
November 2017

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Mol Syndromol 2017 Aug 13;8(5):266-271. Epub 2017 Jun 13.

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1159/000477189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582502PMC
August 2017

Microarrays in prenatal diagnosis.

Best Pract Res Clin Obstet Gynaecol 2017 Jul 23;42:53-63. Epub 2017 Jan 23.

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.bpobgyn.2017.01.003DOI Listing
July 2017

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Am J Med Genet A 2013 Aug 21;161A(8):1853-9. Epub 2013 Jun 21.

Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.35994DOI Listing
August 2013

Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study.

Pharmacogenet Genomics 2013 Feb;23(2):84-93

Unit of Pharmacogenetics and Clinical Psychopharmacology, Department of Psychiatry, Centre for Psychiatric Neurosciences,University Hospital Center, University of Lausanne, Lausanne.

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http://pdfs.journals.lww.com/jpharmacogenetics/2013/02000/Co
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http://dx.doi.org/10.1097/FPC.0b013e32835cb2e2DOI Listing
February 2013

The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test.

Pharmacogenet Genomics 2009 Nov;19(11):877-83

Unit of Biochemistry and Clinical Psychopharmacology, Center for Psychiatric Neurosciences, Department of Psychiatry-CHUV, University of Lausanne, Hospital of Cery, Prilly-Lausanne, Switzerland.

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http://dx.doi.org/10.1097/FPC.0b013e32833225e7DOI Listing
November 2009

ABCB1 and cytochrome P450 polymorphisms: clinical pharmacogenetics of clozapine.

J Clin Psychopharmacol 2009 Aug;29(4):319-26

Psychiatrische Dienste Aargau AG, mediQ, Klinik Königsfelden, Brugg.

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http://dx.doi.org/10.1097/JCP.0b013e3181acc372DOI Listing
August 2009

A novel 2D-based approach to the discovery of candidate substrates for the metalloendopeptidase meprin.

FEBS J 2008 Sep 30;275(18):4490-509. Epub 2008 Jul 30.

Institute of Biochemistry and Molecular Medicine, University of Berne, Switzerland.

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http://doi.wiley.com/10.1111/j.1742-4658.2008.06592.x
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http://dx.doi.org/10.1111/j.1742-4658.2008.06592.xDOI Listing
September 2008

CYP2D6 and ABCB1 genetic variability: influence on paroxetine plasma level and therapeutic response.

Ther Drug Monit 2008 Aug;30(4):474-82

Division of Adult Psychiatry, Department of Psychiatry, Geneva University Hospitals, Chêne-Bourg, Switzerland.

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http://dx.doi.org/10.1097/FTD.0b013e31817d6f5dDOI Listing
August 2008