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Journal Articles (7)
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Investigative Ophthalmology & Visual Science (8)
Translational Vision Science & Technology (1)

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Retina (3)
ARVO Annual Meeting Abstract (2)
Biochemistry and Molecular Biology (2)
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ARVO Annual Meeting Abstract June 2022

X-linked retinitis pigmentosa caused by a non-canonical splice variant in RPGR

Samuel Koller; Tim Beltramelli; Agnès Wlodarczyk; Silke Feil; Lucy Bähr; Christina Gerth-Kahlert; Moreno Menghini; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):504 – A0081.

ARVO Annual Meeting Abstract June 2022

Intrafamilial phenotypic variability in a large family with autosomal dominant RP1 associated Retinitis pigmentosa, and novel RP1 variants in autosomal recessive RP

Moreno Menghini; Samuel Koller; David Grubich Atac; Silke Feil; Fatma Kivrak Pfiffner; Lucy Bähr; Istvan Magyar; Angela Bahr; Daniel Barthelmes; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1593 – A0382.

Articles June 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

PDF

Elena Lang; Samuel Koller; Luzy Bähr; Marc Töteberg-Harms; David Atac; Françoise Roulez; Angela Bahr; Katharina Steindl; Silke Feil; Wolfgang Berger; Christina Gerth-Kahlert
TAGS: cohort studies, glaucoma, congenital, whole exome sequencing, glaucoma
Trans. Vis. Sci. Tech.. 2020; 9(7):47. https://doi.org/10.1167/tvst.9.7.47

Includes: Supplemental Content

Retina February 2010

Cone versus Rod Disease in a Mutant Rpgr Mouse Caused by Different Genetic Backgrounds

PDF

Sandra Brunner; Sergej Skosyrski; Renate Kirschner-Schwabe; Klaus-Peter Knobeloch; John Neidhardt; Silke Feil; Esther Glaus; Ulrich F. O. Luhmann; Klaus Rüther; Wolfgang Berger
TAGS: genetics, mice, retinal cone, rod photoreceptors, mutation, electroretinography, proteins, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(2):1106-1115. https://doi.org/10.1167/iovs.08-2742

Includes: Supplemental Content

Retinal Cell Biology February 2009

Differential Gene Expression in Ndph -Knockout Mice in Retinal Development

PDF

Nikolaus F. Schäfer; Ulrich F. O. Luhmann; Silke Feil; Wolfgang Berger
TAGS: gene expression, genes, mice, retina, polymerase chain reaction, proteins, angiogenesis
Invest. Ophthalmol. Vis. Sci.. 2009; 50(2):906-916. https://doi.org/10.1167/iovs.08-1731

Retina August 2006

Structural and Functional Abnormalities of Retinal Ribbon Synapses due to Cacna2d4 Mutation

PDF

Katharina A. Wycisk; Birgit Budde; Silke Feil; Sergej Skosyrski; Francesca Buzzi; John Neidhardt; Esther Glaus; Peter Nürnberg; Klaus Ruether; Wolfgang Berger
TAGS: genetic linkage analysis, mice, mutation, retina, synapses, reverse transcriptase polymerase chain reaction, genome, retinal cone, mice, inbred c57bl, phenotype
Invest. Ophthalmol. Vis. Sci.. 2006; 47(8):3523-3530. https://doi.org/10.1167/iovs.06-0271

Includes: Supplemental Content

Retina September 2005

Role of the Norrie Disease Pseudoglioma Gene in Sprouting Angiogenesis during Development of the Retinal Vasculature

PDF

Ulrich F. O. Luhmann; Jihong Lin; Niyazi Acar; Stefanie Lammel; Silke Feil; Christian Grimm; Mathias W. Seeliger; Hans-Peter Hammes; Wolfgang Berger
TAGS: angiogenesis, blood capillaries, congenital progressive oculo-acoustico-cerebral degeneration, genes, hypoxia, mice, retina, retinal vasculature, electroretinography, vasculature
Invest. Ophthalmol. Vis. Sci.. 2005; 46(9):3372-3382. https://doi.org/10.1167/iovs.05-0174

Includes: Multimedia, Supplemental Content

Biochemistry and Molecular Biology October 2003

NYX (Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein

PDF

Christina Zeitz; Harry Scherthan; Susanne Freier; Silke Feil; Vanessa Suckow; Susann Schweiger; Wolfgang Berger
TAGS: genes, membrane proteins, mice, mutation, night blindness, congenital stationary, proteins, x chromosomes, hela cells, antibodies, tissue membrane
Invest. Ophthalmol. Vis. Sci.. 2003; 44(10):4184-4191. https://doi.org/10.1167/iovs.03-0251

Biochemistry and Molecular Biology September 2002

Global Gene Expression Analysis in a Mouse Model for Norrie Disease: Late Involvement of Photoreceptor Cells

PDF

Steffen Lenzner; Sandra Prietz; Silke Feil; Ulrike A. Nuber; H.-Hilger Ropers; Wolfgang Berger
TAGS: clone cells, congenital progressive oculo-acoustico-cerebral degeneration, crossbreeding, dna, complementary, eye, gene expression, genes, libraries, mice, mice, knockout
Invest. Ophthalmol. Vis. Sci.. 2002; 43(9):2825-2833.

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