Wolfgang Berger

Wolfgang Berger

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Wolfgang Berger

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The Expression of Decidual Protein Induced by Progesterone (DEPP) is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells.

Genes (Basel) 2020 Jan 18;11(1). Epub 2020 Jan 18.

Department of Ophthalmology, Lab for Retinal Cell Biology, University of Zurich, 8952 Schlieren, Switzerland.

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http://dx.doi.org/10.3390/genes11010111DOI Listing
January 2020

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Hum Mol Genet 2019 Nov 7. Epub 2019 Nov 7.

Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddz268DOI Listing
November 2019

Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy.

Nat Commun 2019 Nov 20;10(1):5243. Epub 2019 Nov 20.

Max Planck Institute for Molecular Biomedicine, Department of Tissue Morphogenesis, University of Münster, Faculty of Medicine, D-48149, Münster, Germany.

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http://dx.doi.org/10.1038/s41467-019-13220-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868140PMC
November 2019

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2019 07;60(8):2822-2835

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

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http://dx.doi.org/10.1167/iovs.18-25643DOI Listing
July 2019

Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes.

Int J Legal Med 2018 Jul 19;132(4):1057-1065. Epub 2018 Jan 19.

Zurich Institute of Forensic Medicine, Forensic Genetics, University of Zurich, Winterthurerstrasse 190/52, 8057, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00414-018-1775-yDOI Listing
July 2018

Unusual retinopathy in a child with severe combined immune deficiency.

Ophthalmic Genet 2018 Jan-Feb;39(1):92-94. Epub 2017 Aug 16.

b Institute of Medical Molecular Genetics , University of Zurich , Schlieren , Switzerland.

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http://dx.doi.org/10.1080/13816810.2017.1350721DOI Listing
March 2018

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Invest Ophthalmol Vis Sci 2017 08;58(10):3840-3850

Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland 11Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland 12Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.17-21597DOI Listing
August 2017

A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake.

J Psychopharmacol 2017 02 27;31(2):233-242. Epub 2016 Sep 27.

1 Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1177/0269881116668595DOI Listing
February 2017

Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.

Int J Legal Med 2016 Jul 4;130(4):1011-1021. Epub 2016 Feb 4.

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

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http://dx.doi.org/10.1007/s00414-016-1317-4DOI Listing
July 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Invest Ophthalmol Vis Sci 2016 05;57(6):2637-46

Program of Genetics and Genome Biology The Hospital for Sick Children, Toronto, Canada 2Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada 3Department of Ophthalmology and Vision Science.

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http://dx.doi.org/10.1167/iovs.15-18281DOI Listing
May 2016

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

PLoS One 2014 13;9(11):e112747. Epub 2014 Nov 13.

Institute of Medical Molecular Genetics, University of Zurich Wagistrasse 12, CH-8952 Schlieren, Switzerland; Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland; Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Zurich, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112747PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231049PMC
July 2015

Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina.

Invest Ophthalmol Vis Sci 2014 Jul 15;55(8):4714-27. Epub 2014 Jul 15.

Lab for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Zurich, Switzerland Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland Zurich Center of Neuroscience (ZNZ), Zurich, Switzerland.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.14-14332DOI Listing
July 2014

Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans.

J Neurosci 2014 Jan;34(2):566-73

Institute of Pharmacology and Toxicology, University of Zürich, 8057 Zürich, Switzerland, Institute of Medical Molecular Genetics, University of Zürich, CH-8952 Schlieren, Switzerland, Zürich Center for Integrative Human Physiology, University of Zürich, 8057 Zürich, Switzerland, and Neuroscience Center Zurich, University of Zürich and ETH Zürich, 8057 Zürich, Switzerland.

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http://dx.doi.org/10.1523/JNEUROSCI.4128-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608156PMC
January 2014

A model for structure-based comparison of many categories in small-multiple displays.

IEEE Trans Vis Comput Graph 2013 Dec;19(12):2287-96

VRVis Research Center, Vienna, and the Institute of Computer Graphics and Algorithms, Vienna University of Technology.

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http://dx.doi.org/10.1109/TVCG.2013.122DOI Listing
December 2013

RPGR mutations might cause reduced orientation of respiratory cilia.

Pediatr Pulmonol 2013 Apr 6;48(4):352-63. Epub 2012 Aug 6.

Department of Molecular and Clinical Genetics, Institute of Human Genetics Polish Academy of Sciences, Poznań, Poland.

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http://dx.doi.org/10.1002/ppul.22632DOI Listing
April 2013

The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study.

J Asthma 2013 Mar 13;50(2):147-54. Epub 2013 Jan 13.

Swiss Tropical and Public Health Institute, Basel, Switzerland.

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http://dx.doi.org/10.3109/02770903.2012.757776DOI Listing
March 2013

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs.

Hum Gene Ther 2013 Jan 23;24(1):97-104. Epub 2012 Nov 23.

Institute of Medical Molecular Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland.

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http://www.zora.uzh.ch/77022/1/A_gene_therapeutic_approach_t
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http://online.liebertpub.com/doi/abs/10.1089/hum.2012.110
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http://dx.doi.org/10.1089/hum.2012.110DOI Listing
January 2013

Stated response to increased enforcement density and penalty size for speeding and driving unbelted.

Accid Anal Prev 2012 Nov 18;49:501-11. Epub 2012 Apr 18.

Institute for Transport Studies, BOKU, University of Natural Resources and Life Sciences, A-1190 Vienna, Peter Jordan Straße 82, Austria.

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http://dx.doi.org/10.1016/j.aap.2012.03.023DOI Listing
November 2012

The Multi-Stimulus Box: an innovative learning device for the comparative study of object perception and recognition with various types of stimuli.

Behav Res Methods 2012 Sep;44(3):725-32

Department of Cognitive Biology, University of Vienna, Althanstraße 14, 1090 Vienna (Wien), Austria.

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http://dx.doi.org/10.3758/s13428-011-0179-4DOI Listing
September 2012

Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.

Hum Mol Genet 2012 Jun 6;21(12):2619-30. Epub 2012 Mar 6.

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

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http://dx.doi.org/10.1093/hmg/dds087DOI Listing
June 2012

Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD.

Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4694-702. Epub 2011 Jul 1.

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

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http://dx.doi.org/10.1167/iovs.10-6080DOI Listing
July 2011

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Hum Mutat 2011 Jul;32(7):815-24

University of Zurich, Institute of Medical Molecular Genetics, Schorenstrasse 16, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/humu.21509DOI Listing
July 2011

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.

Mol Ther 2011 May 15;19(5):936-41. Epub 2011 Feb 15.

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

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http://dx.doi.org/10.1038/mt.2011.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098652PMC
May 2011

Geologist at sea: aspects of ocean history.

Ann Rev Mar Sci 2011 ;3:1-34

Scripps Institution of Oceanography, University of California, La Jolla, California 92093-0244, USA.

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http://dx.doi.org/10.1146/annurev-marine-120709-142831DOI Listing
March 2011

Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort.

Hum Immunol 2010 Nov 22;71(11):1154-60. Epub 2010 Aug 22.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich and Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.humimm.2010.08.008DOI Listing
November 2010

The molecular basis of human retinal and vitreoretinal diseases.

Prog Retin Eye Res 2010 Sep 31;29(5):335-75. Epub 2010 Mar 31.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 Schwerzenbach, Switzerland.

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https://linkinghub.elsevier.com/retrieve/pii/S13509462100002
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http://dx.doi.org/10.1016/j.preteyeres.2010.03.004DOI Listing
September 2010

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

Invest Ophthalmol Vis Sci 2010 Aug 24;51(8):4253-65. Epub 2010 Mar 24.

Department of Ophthalmology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1167/iovs.09-4655DOI Listing
August 2010

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

Invest Ophthalmol Vis Sci 2010 Jul 24;51(7):3354-61. Epub 2010 Feb 24.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.10-5193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904002PMC
July 2010

Effect of contact time on the release of contaminants from granular waste materials during column leaching experiments.

Waste Manag 2010 Apr 19;30(4):565-71. Epub 2010 Jan 19.

Federal Institute for Materials Research and Testing, Unter den Eichen 87, 12205 Berlin, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S0956053X0900524
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http://dx.doi.org/10.1016/j.wasman.2009.11.022DOI Listing
April 2010

Mutation- and tissue-specific alterations of RPGR transcripts.

Invest Ophthalmol Vis Sci 2010 Mar 15;51(3):1628-35. Epub 2009 Oct 15.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.09-4031DOI Listing
March 2010

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Invest Ophthalmol Vis Sci 2010 Feb 10;51(2):1106-15. Epub 2009 Dec 10.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.08-2742DOI Listing
February 2010

A multi-threading architecture to support interactive visual exploration.

IEEE Trans Vis Comput Graph 2009 Nov-Dec;15(6):1113-20

VRVis Research Center, Vienna, Austria.

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http://dx.doi.org/10.1109/TVCG.2009.110DOI Listing
January 2010

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

Hum Mutat 2009 Sep;30(9):1355-64

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.21058DOI Listing
September 2009

Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect.

Environ Health Perspect 2009 Sep 26;117(9):1420-7. Epub 2009 May 26.

Department of Chronic Disease Epidemiology, Institute of Social and Preventive Medicine, University of Zurich, Sumatrastrasse 30, Zurich, Switzerland.

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http://dx.doi.org/10.1289/ehp.0800430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737020PMC
September 2009

Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification.

Reprod Biomed Online 2009 Jun;18(6):815-20

Clinic for Reproductive Endocrinology, Department of Gynaecology and Obstetrics, University Hospital Zurich, Switzerland.

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http://dx.doi.org/10.1016/s1472-6483(10)60031-4DOI Listing
June 2009

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Hum Mutat 2009 Feb;30(2):255-63

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/humu.20861DOI Listing
February 2009

Differential gene expression in Ndph-knockout mice in retinal development.

Invest Ophthalmol Vis Sci 2009 Feb 31;50(2):906-16. Epub 2008 Oct 31.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.08-1731DOI Listing
February 2009

Evaluation of leaching and extraction procedures for soil and waste.

Waste Manag 2008 24;28(6):1027-38. Epub 2007 May 24.

Federal Institute for Materials Research and Testing (BAM), Division IV.3, Waste Treatment and Remedial Engineering, Unter den Eichen 87, D-12205 Berlin, Germany.

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http://dx.doi.org/10.1016/j.wasman.2007.03.008DOI Listing
October 2008

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.

Biol Reprod 2008 Oct 25;79(4):608-17. Epub 2008 Jun 25.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute for Medical Genetics, University of Zurich, 8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1095/biolreprod.107.067454DOI Listing
October 2008

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Invest Ophthalmol Vis Sci 2008 Sep 16;49(9):4105-14. Epub 2008 May 16.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.08-1717DOI Listing
September 2008

Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.

Invest Ophthalmol Vis Sci 2008 Sep 16;49(9):4096-104. Epub 2008 May 16.

Department of Ophthalmology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1167/iovs.08-2044DOI Listing
September 2008

SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations.

Clin Chem 2008 Aug 29;54(8):1331-8. Epub 2008 May 29.

Center for Diagnosis of Severe Alpha1-antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease and Unit of Statistics and Biometry, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Italy.

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http://dx.doi.org/10.1373/clinchem.2007.102798DOI Listing
August 2008

Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4.

Eur J Neurosci 2008 May;27(10):2619-28

Division of Medical Molecular Genetics & Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 Schwerzenbach, Switzerland.

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http://doi.wiley.com/10.1111/j.1460-9568.2008.06237.x
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http://dx.doi.org/10.1111/j.1460-9568.2008.06237.xDOI Listing
May 2008

Circulating alpha1-antitrypsin in the general population: determinants and association with lung function.

Respir Res 2008 Apr 25;9:35. Epub 2008 Apr 25.

Molecular Epidemiology/Cancer Registry, Institutes of Social and Preventive Medicine & Clinical Pathology, University of Zurich, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1465-9921-9-35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2413219PMC
April 2008

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

Am J Hum Genet 2008 Mar 14;82(3):772-9. Epub 2008 Feb 14.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University Zurich, CH-8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1016/j.ajhg.2007.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427214PMC
March 2008

Results of interlaboratory comparisons of column percolation tests.

J Hazard Mater 2007 Sep 15;148(3):714-20. Epub 2007 Mar 15.

Federal Institute for Materials Research and Testing (BAM), Division IV.3 Waste Treatment and Remedial Engineering, Unter den Eichen 87, D-12205 Berlin, Germany.

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http://dx.doi.org/10.1016/j.jhazmat.2007.03.039DOI Listing
September 2007

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

Hum Mutat 2007 Aug;28(8):771-80

Institute of Medical Genetics, Division of Medical Molecular Genetics and Gene Diagnostics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.20499DOI Listing
August 2007

Identification and characterization of a novel RPGR isoform in human retina.

Hum Mutat 2007 Aug;28(8):797-807

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.20521DOI Listing
August 2007

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.

Hum Genet 2007 Aug 10;122(1):23-32. Epub 2007 May 10.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603, Schwerzenbach, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00439-007-0371-xDOI Listing
August 2007

Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study.

Respir Res 2007 Jan 11;8. Epub 2007 Jan 11.

Institutes of Social and Preventive Medicine & Surgical Pathology, Molecular Epidemiology/Cancer Registry, University of Zurich & University Hospital Zurich, Switzerland.

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http://dx.doi.org/10.1186/1465-9921-8-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1781067PMC
January 2007

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

Am J Hum Genet 2006 Nov 27;79(5):973-7. Epub 2006 Sep 27.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1086/508944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698577PMC
November 2006

Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina.

Eur J Neurosci 2006 Sep;24(6):1664-74

Swiss Federal Institute of Technology (ETH) Zurich, Department of Biology, at the University Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1111/j.1460-9568.2006.05053.xDOI Listing
September 2006

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Hum Mutat 2006 Aug;27(8):760-9

University of Zurich, Institute of Medical Genetics, Division of Medical Molecular Genetics and Gene Diagnostics, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.20353DOI Listing
August 2006

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Invest Ophthalmol Vis Sci 2006 Aug;47(8):3523-30

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.06-0271DOI Listing
August 2006

Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly.

Arterioscler Thromb Vasc Biol 2006 Jun 20;26(6):e114-7. Epub 2006 Apr 20.

CardioVascular Center, Cardiology, Hospital, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1161/01.ATV.0000222961.24912.69DOI Listing
June 2006

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Invest Ophthalmol Vis Sci 2006 Apr;47(4):1630-5

University of Zurich, Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.05-1317DOI Listing
April 2006

Identification of the genetic defect in the original Wagner syndrome family.

Mol Vis 2006 Apr 17;12:350-5. Epub 2006 Apr 17.

Division of Medical Molecular Genetics and Gene Diagnostics, University of Zurich, Zurich, Switzerland.

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April 2006

Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice.

Vision Res 2006 Mar 14;46(5):688-98. Epub 2005 Nov 14.

Institut fuer Klinische Physiologie, Charite-Universitaetsmedizin Berlin, Campus Benjamin Franklin, Germany.

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http://dx.doi.org/10.1016/j.visres.2005.08.030DOI Listing
March 2006

Mice null for Frizzled4 (Fzd4-/-) are infertile and exhibit impaired corpora lutea formation and function.

Biol Reprod 2005 Dec 10;73(6):1135-46. Epub 2005 Aug 10.

Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1095/biolreprod.105.042739DOI Listing
December 2005

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Invest Ophthalmol Vis Sci 2005 Nov;46(11):4328-35

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.05-0526DOI Listing
November 2005

Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature.

Invest Ophthalmol Vis Sci 2005 Sep;46(9):3372-82

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, 8603 Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1167/iovs.05-0174DOI Listing
September 2005

Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction.

Genesis 2005 Aug;42(4):253-62

Division of Medical Molecular Genetics & Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/gene.20141DOI Listing
August 2005

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

Am J Med Genet A 2005 Jul;136(1):31-7

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.30767
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http://dx.doi.org/10.1002/ajmg.a.30767DOI Listing
July 2005

Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.

Mol Vis 2005 Mar 2;11:179-83. Epub 2005 Mar 2.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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March 2005

NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.

Invest Ophthalmol Vis Sci 2003 Oct;44(10):4184-91

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

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http://dx.doi.org/10.1167/iovs.03-0251DOI Listing
October 2003

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.

Invest Ophthalmol Vis Sci 2003 May;44(5):2260-6

Molekulargenetisches Labor, Universitäts-Augenklinik Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.02-0115DOI Listing
May 2003

Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.

Invest Ophthalmol Vis Sci 2002 Sep;43(9):2825-33

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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September 2002

Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

J Neurosci 2002 Jun;22(11):4286-92

Neurosurgery Service, Massachusetts General Hospital, Boston, Massachusetts 02114, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/2002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758776PMC
June 2002