Institut für Medizinische Molekulargenetik

Forschung - Research
Gendiagnostik - Genetic Testing
Lehre - Teaching - Training
Publikationen - Publications
Direktion - Management
Team - People
Stellenangebote - Job Offers
Lageplan - Location plan
Intranet Medmolgen  

Habilitation, Ph.D., Master and Bachelor Thesis


Habilitation

Retinal degeneration: Molecular bases, relevance of splicing and therapeutic approaches

2012

John Neidhardt

Molecular bases of Marfan syndrome and related disorders

2008

Gábor Mátyás


Ph.D. Thesis

Towards treating neurodegeneration-causing splice defects in the eye

2014

Romain Da Costa

The role of paraoxonase-1 in retinal physiology and age-related macular degeneration

2014

Jadwiga Oczos

The understanding of Norrin’s role in angiogenesis

2013

Lucas Mohn

Molecular mechanisms of sprouting angiogenesis in the retina: crosstalk between Notch
and Norrin-Wnt signaling

2012

Jurian Zürcher

Molecular basis of Marfan syndrome: In vitro and in silico analyses of exonic and intronic sequence variants in the FBN1 gene

2012

István Magyar

Identification and treatment of splice defects in ciliary genes RPGR and BBS1 causing retinitis pigmentosa

2011

Fabian Schmid

Norrin signaling in Norrie disease and allelic disorders

2009

Nikolaus Schäfer

Alternative splicing of genes associated with retinitis pigmentosa –
pathogenic mechanisms and therapeutic approaches

2009

Gaby Tanner

Functional analysis of the retinitis pigmentosa GTPase regulator(RPGR) gene

2008

Sandra Brunner

Identification of a gene defect associated with abnormal signal transmission in retinal ribbon-type synapses

2006

Katharina Wycisk

Aufklärung molekularer Pathogenesemechanismen des Norrie-Syndroms

2004

Ulrich Luhmann

Molekulare Ursachen der X-chromosomalen kongenitalen Nachtblindheit

2003

Christina Zeitz


Master Thesis

Functional characterisation of vitreoretinopathy associated DNA sequence variations

2014

Sarah Erni

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

Gene therapy for retinitis pigmentosa caused by mutations in BBS10

2013

Michael Homberger

Gene therapy in X-linked retinitis pigmentosa

2013

Josefin Ahman

Functional mapping of RPGR domains relevant to ciliary transport in retinitis pigmentosa

2012

Michelle McLuckie

Monocarboxylate transporter MCT12: no longer an orphan

2012

Jeannette Abplanalp

Molecular investigation of exudative vitreoretinopathy EVR)

2011

Lea Sollfrank

Relevance of Norrin- and Notch-signalling for retinal angiogenesis

2011

Martin Fritzsche

Studies on the therapeutic potential of U1 snRNA to rescue splice defects

2009

Germaine Korner

Nebenwirkungen eines therapeutischen Ansatzes zur Behandlung von pathogenem Exonverlust mittels U1snRNA Adaption

2009

Ute Boettinger

Candidate gene analyses in patients with suspected Marfan syndrome

2009

Helen Burri

Assessment of the role of COL3A1 gene mutations in patients with suspected Marfan syndrome

2009

Janine Meienberg

Genetische Ursachen und Assoziationen bei der altersbedingten Makuladegeneration

2009

Björn Abendroth

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

Molecular analysis of congenital stationary night blindness (CSNB)

2007

Stephan Labs

In silico and in vitro analyses of missense mutationsin the human Fibrillin-1 (FBN1) gene  

2007

Garif Yalak

Analysis of transcriptional regulatory elements of NDP, FZD4 and LRP5 & FZD4 mutation screening in patients diagnosed with exudative vitreoretinopathies

2007

Jurian Zuercher

Expression of Norrin towards the understanding of its role in retinal angiogenesis

2007

Lucas Mohn

Large genomic FBN1 rearrangements in patients with Marfan syndrome and related disorders

2007

Sira Alonso

Untersuchung genetischer Faktoren, die an der Entwicklung von Arteriosklerose beteiligt sind.

2004

Simona Pancera

Mutation Analysis of candidate genes in a sporadic mouse mutant with abnormal ribbon synapses

2004

Francesca Buzzi

Mutation analysis in patients with X-linked night blindness and transcriptional regulation of NYX

2003

Roberta Minotti

Expression von Angiogenesefaktoren in der Retina von Norrie disease (ND) Mäusen.

2003

Stefanie Lammel

Bachelor Thesis

Functional genetics of the MCT12 transporter

2014

Pooja Gangras

Praxissemesterbericht

2012

Sandra Dold

SLC16A12: Function, splicing, expression and mutations2012Philipp Braun