Results 171 to 180 of about 9,987 (182)

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies

American Journal of Medical Genetics Part A, 1995
Lisa A Schimmenti, Mary Ella Pierpont, William B Dobyns   +2 more
exaly  

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

Journal of Neurology, 2005
E Cardaioli, Gian Nicola Gallus, Alessandra Rufa   +2 more
exaly  

[Hereditary optic atrophies. Study of a family with dominant autosomal optic atrophy].

Revista clinica espanola, 1982
M, Sebastián de Erice, J, Romero López, J, Navarro Esteban, F, Jiménez, L, Soto Faure   +4 more
openaire   +1 more source

Optic 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 more
openaire   +1 more source

[Benign autosomal dominant hereditary optic atrophy].

Bulletin des societes d'ophtalmologie de France, 1986
P, Verin, P, Comte
openaire   +1 more source

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American Journal of Medical Genetics, Part A, 2011
Nanna D Rendtorff, Marianne Lodahl, Kathleen S Arnos   +2 more
exaly  

Retinal vessel diameters decrease with macular ganglion cell layer thickness in autosomal dominant optic atrophy and in healthy subjects

Acta Ophthalmologica, 2014
Cecilia Rönnbäck, Karen Grønskov, Michael Larsen   +2 more
exaly  

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene

Journal of the Neurological Sciences, 2015
Patrizia Formichi, Elena Radi, Gian Nicola Gallus   +2 more
exaly  

Thickness mapping of individual retinal layers and sectors by Spectralis SD‐OCT in Autosomal Dominant Optic Atrophy

Acta Ophthalmologica, 2018
Nihada Ćorajević, Michael Larsen, Cecilia Rönnbäck   +2 more
exaly  

Optic Atrophy, Autosomal Dominant, Kjer Type

2012
openaire   +1 more source