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Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 1986 A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other G, Gorgone, S, Li Volti, N, Cavallaro, L, Conti, G M, Profeta, F, Mollica +5 moreopenaire +1 more sourceAutosomal Dominant Optic Atrophy Kjer Type
2009 Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Gema Ariceta, Daniel Batlle, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Thomas Schwarz, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, Stefan R. Bornstein, Holger S. Willenberg, James M. Powers, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Markus Böhm, Thomas A. Luger, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, André B. P. Kuilenburg, Albert H. Gennip, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Cord Sunderkötter, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Winfried März, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Patrick T. S. Ma, Michael L. H. Ma, Alexander K. C. Leung, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Thomas Klockgether, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, Randolf Brehler, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan +199 moreopenaire +1 more sourceOptic Atrophy, Autosomal Dominant, Kjer Type
2009 Marc Slawik, Felix Beuschlein, Katrina Light, Roger Mulder, Gordon Dent, Mark G. Buckley, Stephen T. Holgate, Rosalia Misseri, Kirstan K. Meldrum, Massimiliano Mirabella, Gabriella Silvestri, Thomas Frieling, Alexander K. C. Leung, Andrew L. Wong, Marcus Schmitt, Jürgen Kohlhase, Sevan Hopyan, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Maria Judit Molnar, Andrew J. Saxon, Simone Schimpf, Stefan R. Bornstein, Regina Ensenauer, Arno Fuchshuber, Carlo Nunes, Michael Escudier, Jo Spencer, Miranda Lomer, Stephen Challacombe, Jeremy Sanderson, Manish Suneja, Christie P. Thomas, Donatella Granchi, Nicola Baldini, George E. Ehrlich, Matthew B. Dobbs, Yasuaki Nakagawa, James Hyland, Roland Staud, Rajiv Kumar, Mary H. Hohenhaus, Nananda F. Col, Miep Helfrich, Anna Villa, Jan Hellemans, Geert Mortier, Minrong Ai, Matthew L. Warman, Markus Pfister, Hans-Peter Zenner, Markus Pfister, Hans-Peter Zenner, Stefan K. Plontke, Hans-Peter Zenner +55 moreopenaire +1 more source
