Publications by authors named "Bernard Conrad"

17Publications

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.

J Clin Neurosci 2011 Jan 24;18(1):90-5. Epub 2010 Nov 24.

Pediatric Neurology, University Children's Hospital, Inselspital, Bern 3010, Switzerland.

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http://dx.doi.org/10.1016/j.jocn.2010.07.118DOI Listing
January 2011

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features.

Am J Med Genet A 2007 Aug;143A(16):1894-9

Service of Medical Genetics, Department of Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31789DOI Listing
August 2007

Gene duplication: a drive for phenotypic diversity and cause of human disease.

Annu Rev Genomics Hum Genet 2007 ;8:17-35

Department of Genetic Medicine & Development, University of Geneva Medical School and Geneva University Hospitals, CH-1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1146/annurev.genom.8.021307.110233DOI Listing
December 2007

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

Am J Med Genet A 2007 Apr;143A(8):888-90

Department of Genetic Medicine and Development, Geneva University Medical School and University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31651DOI Listing
April 2007

Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter.

EMBO Rep 2005 Oct;6(10):956-60

Department of Genetic Medicine & Development, University of Geneva Medical School, CMU, 1211 Geneva, Switzerland.

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http://dx.doi.org/10.1038/sj.embor.7400502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1369183PMC
October 2005

[Rapid prenatal diagnosis of chromosome abnormalities: from FISH to QF-PCR].

Rev Med Suisse 2005 Mar;1(11):785-8

Service de génétique médicale, Laboratoire de cytogénétique, HUG, 1211 Genève 4.

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March 2005

Negative thymocyte selection to HERV-K18 superantigens in humans.

Blood 2005 Jun 11;105(11):4377-82. Epub 2005 Jan 11.

Department of Genetic Medicine and Development, University of Geneva Medical School, CH-1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1182/blood-2004-07-2596DOI Listing
June 2005

Novel procedures for high-throughput analysis of a frequent insertion-deletion polymorphism in the human T-cell receptor beta locus.

Authors:
Bernard Conrad

Immunogenetics 2004 Jun 25;56(3):220-4. Epub 2004 May 25.

Department of Microbiology and Molecular Medicine, CMU, University of Geneva, 1 rue Michel Servet, 1211, Geneva 4, Switzerland.

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http://dx.doi.org/10.1007/s00251-004-0684-zDOI Listing
June 2004

Association of human endogenous retrovirus K-18 polymorphisms with type 1 diabetes.

Diabetes 2004 Mar;53(3):852-4

Department of Genetics and Microbiology, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.2337/diabetes.53.3.852DOI Listing
March 2004

Potential mechanisms of interferon-alpha induced autoimmunity.

Authors:
Bernard Conrad

Autoimmunity 2003 Dec;36(8):519-23

Department of Genetics and Microbiology, University of Geneva Medical School, C.M.U., 1 rue Michel Servet, 1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1080/08916930310001602137DOI Listing
December 2003