Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Autor: Bedoni N; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Haer-Wigman L; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Vaclavik V; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Fertas Andrology Laboratory, Lausanne, Switzerland., Tran VH; Jules Gonin Eye Hospital, Lausanne, Switzerland., Farinelli P; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Balzano S; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Royer-Bertrand B; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland., El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Bonny O; Service of Nephrology, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Ikonomidis C; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Litzistorf Y; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Nikopoulos K; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Yioti GG; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece., Stefaniotou MI; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece., McKibbin M; The Eye Department, St. James's University Hospital, Leeds, UK., Booth AP; Royal Eye Infirmary, Derriford Hospital, Plymouth, UK., Ellingford JM; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Black GC; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Toomes C; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Bax N; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Klaver CC; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Thiadens AA; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Murisier F; Fertas Andrology Laboratory, Lausanne, Switzerland., Schorderet DF; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland., Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK., Cremers FP; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Andréasson S; Department of Ophthalmology, Lund University, Lund, Sweden., Munier FL; Jules Gonin Eye Hospital, Lausanne, Switzerland., Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2016 Oct 15; Vol. 25 (20), pp. 4546-4555.

Genetic polymorphisms associated with retinal vein occlusion: a Greek case-control study and meta-analysis.

Autor: Yioti GG; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece., Panagiotou OA, Vartholomatos GA, Kolaitis NI, Pappa CN, Evangelou E, Stefaniotou MI

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2013 Sep; Vol. 34 (3), pp. 130-9. Date of Electronic Publication: 2013 Jan 04.

Our experience with perfluorohexyloctane (F6H8) as a temporary endotamponade in vitreoretinal surgery.

Autor: Stefaniotou MI; Department of Ophthalmology, University Eye Clinic of Ioannina, Greece. ophthalm@cc.uoi.gr, Aspiotis MV, Kitsos GD, Kalogeropoulos CD, Asproudis IC, Psilas KG

Publikováno v: European journal of ophthalmology [Eur J Ophthalmol] 2002 Nov-Dec; Vol. 12 (6), pp. 518-22.