Zobrazeno 1 - 5
of 5
pro vyhledávání: '"syndromic optic neuropathy"'
Autor:
Anthony T. Moore, Yann Nadjar, Miodrag Vojcic, Patrick Yu-Wai-Man, F. Lucy Raymond, James Acheson, Anthony G. Robson, Guy Lenaers, Mary M. Reilly, Neringa Jurkute, Andrew R. Webster, Jenny Higgs, Gavin Arno, Priya D. Shanmugarajah, Marios Hadjivassiliou, Valérie Touitou, Iain Horrocks, Roy Poh
Publikováno v:
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩
Investigative Ophthalmology & Visual Science, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩
Author(s): Jurkute, Neringa; Shanmugarajah, Priya D; Hadjivassiliou, Marios; Higgs, Jenny; Vojcic, Miodrag; Horrocks, Iain; Nadjar, Yann; Touitou, Valerie; Lenaers, Guy; Poh, Roy; Acheson, James; Robson, Anthony G; Raymond, F Lucy; Reilly, Mary M; Yu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e772d58073fe92e45498c09665f6b8
http://hdl.handle.net/20.500.12278/32190
http://hdl.handle.net/20.500.12278/32190
Autor:
Jurkute, Neringa, Shanmugarajah, Priya D, Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G, Raymond, F Lucy, Reilly, Mary M, Yu-Wai-Man, Patrick, Moore, Anthony T, Webster, Andrew R, Arno, Gavin, Genomics England Research Consortium
Publikováno v:
Investigative ophthalmology & visual science, vol 62, iss 6
PurposeThe purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants.MethodsPatients carrying biallelic candidate FDXR variants were ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::571a4f90c9353d80f98663c3bad7386d
https://escholarship.org/uc/item/3x32m4g1
https://escholarship.org/uc/item/3x32m4g1
Akademický článek
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Autor:
Sylvie Gerber, Maxime Hebrard, Patrick Yu-Wai-Man, Josseline Kaplan, Yasmina Talmat-Amar, Gaël Manes, Claire Angebault, Dominique Bonneau, Mireille Rossel, Jean-Michel Rozet, Abdelhamid Barakat, Guy Lenaers, Naïg Gueguen, François Halloy, Christian P. Hamel, Pierre-Olivier Guichet, Isabelle Meunier, Birgit Lorenz, Valerio Carelli, Camille Piro-Mégy, Marisa Teigell, Agathe Roubertie, Mélanie Quiles, Pascal Reynier, Patrick F. Chinnery, Béatrice Bocquet, Lucas Fares-Taie, Markus N. Preising, Majida Charif, Patrizia Amati-Bonneau, Cécile Delettre, Pascale Bomont, David Moore
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 97 (5), pp.754-60. ⟨10.1016/j.ajhg.2015.09.012⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 97 (5), pp.754-60. ⟨10.1016/j.ajhg.2015.09.012⟩
International audience; Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with early-onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347033b04cafb9162e33e77ffd20d71c
https://europepmc.org/articles/PMC4667133/
https://europepmc.org/articles/PMC4667133/
Akademický článek
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