Results 191 to 200 of about 9,462 (208)

Autosomal Dominant Optic Atrophy

2018
openaire   +1 more source

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy

Ophthalmic Genetics, 2020
Thomas Caulfield, Haytham Helmi, Abhimanyu S Ahuja   +2 more
exaly  

Autosomal Dominant Hereditary Optic Neuropathy (ADOA): A Review of the Genetics and Clinical Manifestations of ADOA and ADOA+

Seminars in Ophthalmology, 2013
S Lessell
exaly  

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

Human Mutation, 2003
Dominique Bonneau, Carmen Ayuso, Birgit Lorenz   +2 more
exaly  

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

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy

Mitochondrion, 2019
Julia Han, Kathryn Osann, Virginia Kimonis   +2 more
exaly  

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Molecular Genetics & Genomic Medicine, 2020
Julian Nevado, Pablo Lapunzina, Maria Del Rocío Mena   +2 more
exaly  

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

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

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

Journal of Neurology, 2005
Gian Nicola Gallus, Alessandra Rufa, Antonio Federico   +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