Publications by authors named "Barbara Kloeckener-Gruissem"

26Publications

Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.

J Am Soc Nephrol 2016 05 16;27(5):1426-36. Epub 2015 Sep 16.

Division of Nephrology, Hypertension and Clinical Pharmacology, and Department of Clinical Research, University of Bern, Switzerland; Institute of Biochemistry and Molecular Medicine, Swiss National Centre of Competence in Research Transcure, and

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http://dx.doi.org/10.1681/ASN.2015040411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849831PMC
May 2016

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

Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.

Invest Ophthalmol Vis Sci 2011 Aug 29;52(9):6774-84. Epub 2011 Aug 29.

Department of Pathology, Anatomy, and Cell Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1167/iovs.10-6579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176021PMC
August 2011

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

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

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

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

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

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

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

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

Effect of concurrent vitamin A and iodine deficiencies on the thyroid-pituitary axis in rats.

Thyroid 2006 Oct;16(10):961-5

Human Nutrition Laboratory, Institute of Food Science and Nutrition, ETH Zurich, Switzerland.

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http://dx.doi.org/10.1089/thy.2006.16.961DOI Listing
October 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

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

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