Superior oblique surgery: when and how?

Autor: Taylan Şekeroğlu H, Sanac AS, Arslan U, Sener EC

Publikováno v: Clinical Ophthalmology, Vol 2013, Iss default, Pp 1571-1574 (2013)

Hande Taylan Şekeroğlu,1 Ali Sefik Sanac,1 Umut Arslan,2 Emin Cumhur Sener11Department of Ophthalmology, 2Department of Biostatistics, Hacettepe University Faculty of Medicine, Ankara, TurkeyBackground: The purpose of this paper is to review differ

Externí odkaz: https://doaj.org/article/60a77a6cdeed4186a45bbe583becb989

Right-sided Duane retraction syndrome associated with multiple malformations

Autor: S Songül Yalçin, Kadriye Yurdakök, Caģdas D, Sener Ec

Publikováno v: Pediatrics international : official journal of the Japan Pediatric Society. 45(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f0ea49f89d1922d85a04e476fb7df1
https://pubmed.ncbi.nlm.nih.gov/14521536

BINOCULAR FUNCTION AND VERTICAL DEVIATIONS IN INFANTILE ESOTROPIA FOLLOWING EARLY SURGERY

Autor: DUMAN, S, SANAC, AS, SENER, EC, BERK, T, ORHAN, M, OZKAN, SB

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2605::3b68b5ed9d9000964790834d2f7212f6
https://avesis.deu.edu.tr/publication/details/d0195857-550e-430f-945e-f9eaec185ab5/oai

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Autor: Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob

Publikováno v: Nature Genetics, 35(4), 318-321. Nature Publishing Group

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503f38e3254efb202533148c92abe089
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Autor: Solaki M; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Baumann B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Reuter P; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Andreasson S; Department of Ophthalmology, University Hospital Lund, Lund, Sweden., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Balousha G; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine., Benedicenti F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Birch D; Retina Foundation of the Southwest, Dallas, Texas, USA., Bitoun P; Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France., Blain D; National Eye Institute/NEI, Bethesda, Maryland, USA., Bocquet B; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France., Branham K; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA., Català-Mora J; Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Barcelona, Esplugues de Llobregat, Spain., De Baere E; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Dollfus H; CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Falana M; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine., Giorda R; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy., Golovleva I; Department of Medical Biosciences/Medical and Clinical Genetics, University of Umea, Umea, Sweden., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK., Heckenlively JR; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA., Jacobson SG; Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jones K; Retina Foundation of the Southwest, Dallas, Texas, USA., Jägle H; Department of Ophthalmology, University of Regensburg, Regensburg, Germany., Janecke AR; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Kellner U; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; RetinaScience, Bonn, 53192, Germany., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lorenz B; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany., Martorell-Sampol L; Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain., Messias A; Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil., Meunier I; National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Sensgene Care Network, France., Belga Ottoni Porto F; INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, Belo Horizonte, MG, Brazil., Papageorgiou E; Department of Ophthalmology, University Hospital of Larissa, Mezourlo, Larissa, Greece., Plomp AS; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., de Ravel TJL; Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium., Reiff CM; Augenarztpraxis am Stadttheater, Freiburg, Germany., Renner AB; Augenarztpraxis Regensburg, Regensburg, Germany., Rosenberg T; Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark., Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany., Salati R; Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Bosisio Parini, Lecco, Italy., Sener EC; Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey., Sieving PA; Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, USA., Stanzial F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA., Tsang SH; Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, New York City, New York, USA., Varsanyi B; Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary., Weleber RG; Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, 97239, Portland, Oregon, USA., Zobor D; Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary., Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany., Wissinger B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

Publikováno v: Human mutation [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 832-858. Date of Electronic Publication: 2022 Apr 14.