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Retinal degeneration: Molecular bases, relevance of splicing and therapeutic approaches | 2012 | John Neidhardt |
Molecular bases of Marfan syndrome and related disorders |
2008 |
Gábor Mátyás |
| ATOH7 as a molecular basis for optic nerve hypoplasia and other retinal diseases | 2021 | David Grubich Atac | |
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The genetic basis of eye diseases: Identification and functional characterization of genes and mutations |
2021 | Jordi Maggi | |
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Functional characterization of sequence variants in SRF, MKL1 and MKL2, presumably associated with exudative vitreoretinopathy |
2015 |
Britta Seebauer |
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Towards treating neurodegeneration-causing splice defects in the eye |
2014 |
Romain Da Costa |
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The role of paraoxonase-1 in retinal physiology and age-related macular degeneration |
2014 |
Jadwiga Oczos |
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The understanding of Norrin’s role in angiogenesis |
2013 |
Lucas Mohn |
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Molecular mechanisms of sprouting angiogenesis in the retina: crosstalk between Notch |
2012 |
Jurian Zürcher |
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Molecular basis of Marfan syndrome: In vitro and in silico analyses of exonic and intronic sequence variants in the FBN1 gene |
2012 |
István Magyar |
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Identification and treatment of splice defects in ciliary genes RPGR and BBS1 causing retinitis pigmentosa |
2011 |
Fabian Schmid |
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Norrin signaling in Norrie disease and allelic disorders |
2009 |
Nikolaus Schäfer |
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Alternative splicing of genes associated with retinitis pigmentosa – |
2009 |
Gaby Tanner |
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Functional analysis of the retinitis pigmentosa GTPase regulator(RPGR) gene |
2008 |
Sandra Brunner |
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Identification of a gene defect associated with abnormal signal transmission in retinal ribbon-type synapses |
2006 |
Katharina Wycisk |
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Aufklärung molekularer Pathogenesemechanismen des Norrie-Syndroms |
2004 |
Ulrich Luhmann |
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Molekulare Ursachen der X-chromosomalen kongenitalen Nachtblindheit |
2003 |
Christina Zeitz |
| Genetic analysis in a Swiss cohort of bilateral congenital cataract |
2021 |
Delia Rechsteiner |
| Genetic analysis in a Swiss cohort of bilateral congenital cataract | 2021 | Lydia Issler |
| Genotype–phenotype spectrum in isolated and syndromic nanophthalmos |
2020 |
Elena Lang |
| Clinical characterization and genetic analysis by whole-exome sequencing of childhood glaucoma patients recruited in Switzerland | 2020 | Elena Lang | |
| Investigation of the genetic cause in patients with eye diseases by Next Generation Sequencing | 2020 | Patricia Haug | |
| Disease modelling of retinopathies using CRISPR/Cas9 editing and human induced pluripotent stem cell differentiation | 2019 | Nathalie Gordon | |
| Mutation screen of SLC16A12 in patients with cataract and functional predictions of the monocarboyxlate transporter MCT12 | 2016 | Michel Bielecki | |
| Stargardt disease modelling using CRISPR/Cas9 technology and human induced pluripotent stem cells | 2018 | Zoja Germuskova | |
| NGS and CRISPR/Cas9 as useful tools to study mutations causing retinal dystrophies | 2016 | Marta Coll Llauradó | |
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Differential response in anti-VEGF treatment for neovascular age-related macular degeneration: relation with variants in angiogenetic genes. |
2015 |
Jordi Maggi |
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Approaches to develop treatment strategies for two eye diseases |
2015 |
Sabrina Steiner |
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Functional characterisation of vitreoretinopathy associated DNA sequence variations |
2014 |
Sarah Erni |
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Gene therapeutic approach using mutation-adapted small nuclear RNA to treat a splice defect in a mouse model of autosomal dominant optic atrophy |
2014 |
Sonja Zimmer |
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Gene therapy for retinitis pigmentosa caused by mutations in BBS10 |
2013 |
Michael Homberger |
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Gene therapy in X-linked retinitis pigmentosa |
2013 |
Josefin Ahman |
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Functional mapping of RPGR domains relevant to ciliary transport in retinitis pigmentosa |
2012 |
Michelle McLuckie |
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Monocarboxylate transporter MCT12: no longer an orphan |
2012 |
Jeannette Abplanalp |
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Molecular investigation of exudative vitreoretinopathy EVR) |
2011 |
Lea Sollfrank |
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Relevance of Norrin- and Notch-signalling for retinal angiogenesis |
2011 |
Martin Fritzsche |
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Studies on the therapeutic potential of U1 snRNA to rescue splice defects |
2009 |
Germaine Korner |
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Nebenwirkungen eines therapeutischen Ansatzes zur Behandlung von pathogenem Exonverlust mittels U1snRNA Adaption |
2009 |
Ute Boettinger |
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Candidate gene analyses in patients with suspected Marfan syndrome |
2009 |
Helen Burri |
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Assessment of the role of COL3A1 gene mutations in patients with suspected Marfan syndrome |
2009 |
Janine Meienberg |
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Genetische Ursachen und Assoziationen bei der altersbedingten Makuladegeneration |
2009 |
Björn Abendroth |
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LRP5 and LRP5L mutation screening in patients with Norrie disease pseudoglioma related phenotypes and expression analysis of potential Norrin targets in Norrin knockout mouse cerebellum |
2008 |
Walter Hänseler |
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Molecular analysis of congenital stationary night blindness (CSNB) |
2007 |
Stephan Labs |
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In silico and in vitro analyses of missense mutationsin the human Fibrillin-1 (FBN1) gene |
2007 |
Garif Yalak |
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Analysis of transcriptional regulatory elements of NDP, FZD4 and LRP5 & FZD4 mutation screening in patients diagnosed with exudative vitreoretinopathies |
2007 |
Jurian Zuercher |
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Expression of Norrin towards the understanding of its role in retinal angiogenesis |
2007 |
Lucas Mohn |
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Large genomic FBN1 rearrangements in patients with Marfan syndrome and related disorders |
2007 |
Sira Alonso |
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Untersuchung genetischer Faktoren, die an der Entwicklung von Arteriosklerose beteiligt sind. |
2004 |
Simona Pancera |
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Mutation Analysis of candidate genes in a sporadic mouse mutant with abnormal ribbon synapses |
2004 |
Francesca Buzzi |
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Mutation analysis in patients with X-linked night blindness and transcriptional regulation of NYX |
2003 |
Roberta Minotti |
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Expression von Angiogenesefaktoren in der Retina von Norrie disease (ND) Mäusen. |
2003 |
Stefanie Lammel |
| Application of Next Generation Sequencing (NGS) to detect known and novel variants in retinal diseases & mapping the interactome of C2orf71 Protein | 2016 | Chaitanya Patel |
| Influence of HuCD147 on SLC16A12 cataract-associated mutations and localization of its MCT12 protein | 2016 | Yachana Chakravarty |
| Effects of SLC16A12 catract-associated mutations on function and localization of its MCT12 protein | 2016 | Ankita Choudhury |
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Study on transporters and its Role in cataract |
2015 |
Janitri Babu |
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Effects of SLC16A12 cataract-associated mutations on function and localization of its MCT12 protein |
2015 |
Nadejda Capatina |
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Functional genetics of the MCT12 transporter |
2014 |
Pooja Gangras |
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Praxissemesterbericht |
2012 |
Sandra Dold |
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SLC16A12: Function, splicing, expression and mutations |
2012 |
Philipp Braun |
