Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Meunier, Isabelle"'
Autor:
Jurkute, Neringa, Bertacchi, Michele, Arno, Gavin, Tocco, Chiara, Kim, Ungsoo Samuel, Kruszewski, Adam M, Avery, Robert A, Bedoukian, Emma C, Han, Jinu, Ahn, Sung Jun, Pontikos, Nikolas, Acheson, James, Davagnanam, Indran, Bowman, Richard, Kaliakatsos, Marios, Gardham, Alice, Wakeling, Emma, Oluonye, Ngozi, Reddy, Maddy Ashwin, Clark, Elaine, Rosser, Elisabeth, Amati-Bonneau, Patrizia, Charif, Majida, Lenaers, Guy, Meunier, Isabelle, Defoort, Sabine, Vincent-Delorme, Catherine, Robson, Anthony G, Holder, Graham E, Jeanjean, Luc, Martinez-Monseny, Antonio, Vidal-Santacana, Mariona, Dominici, Chloé, Gaggioli, Cedric, Giordano, Nadia, Caleo, Matteo, Liu, Grant T, Genomics England Research Consortium, Webster, Andrew R, Studer, Michèle, Yu-Wai-Man, Patrick
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b46fdc600ad4c435bc6b53b70ed9835
Autor:
Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2020, 6 (3), pp.e428. ⟨10.1212/NXG.0000000000000428⟩
Neurology: Genetics
Neurology Genetics, American Academy of Neurology, 2020, 6 (3), pp.e428. ⟨10.1212/NXG.0000000000000428⟩
Neurology: Genetics
Objective To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations.\ud\udMethods Exonic sequences of 22 genes were screened by new-generation sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::800a947024f14a03b65ae37df5f58a9f
https://hal.archives-ouvertes.fr/hal-02942795
https://hal.archives-ouvertes.fr/hal-02942795
Autor:
Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
Publikováno v:
Molecular Vision
Purpose Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone–rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated p
Autor:
Douillard, Aymeric, Picot, Marie-Christine, Delcourt, Cecile, Lacroux, Annie, Zanlonghi, Xavier, Puech, Bernard, Defoort-Dhelemmes, Sabine, Drumare, Isabelle, Jozefowicz, Elsa, Bocquet, Beatrice, Baudoin, Corinne, Marzouka, Nour Al-Dain, Perez-Roustit, Sarah, Arsene, Sophie, Gissot, Valerie, Devin, Francois, Arndt, Carl, Wolff, Benjamin, Mauget-Faysse, Martine, Quaranta, Maddalena, Mura, Thibault, Deplanque, Dominique, Oubraham, Hassiba, Cohen, Salomon Yves, Gastaud, Pierre, Zambrowsky, Olivia, Creuzot Garcher, Catherine, Said, Saddek Mohand, Garavito, Rocio Blanco, Souied, Eric, Sahel, José-Alain, Audo, Isabelle, Hamel, Christian, Meunier, Isabelle
Publikováno v:
Ophthalmology: Journal of The American Academy of Ophthalmology
Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2016, 123 (9), pp.1865-1873. 〈10.1016/j.ophtha.2016.05.018〉
Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2016, 123 (9), pp.1865-1873. ⟨10.1016/j.ophtha.2016.05.018⟩
Ophthalmology: Journal of The American Academy of Ophthalmology, 2016, 123 (9), pp.1865-1873. ⟨10.1016/j.ophtha.2016.05.018⟩
Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2016, 123 (9), pp.1865-1873. 〈10.1016/j.ophtha.2016.05.018〉
Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2016, 123 (9), pp.1865-1873. ⟨10.1016/j.ophtha.2016.05.018⟩
Ophthalmology: Journal of The American Academy of Ophthalmology, 2016, 123 (9), pp.1865-1873. ⟨10.1016/j.ophtha.2016.05.018⟩
Purpose: To assess the association of clinical and biological factors with extensive macular atrophy with pseudodrusen (EMAP) characterized by bilateral macular atrophy occurring in patients aged 50 to 60 years and a rapid progression to legal blindn
Autor:
Günther Rudolph, Susanne Kohl, Alberta A H J Thiadens, Fadi Nasser, Carmen Ayuso, Thomas Rosenberg, Bart P. Leroy, Ulrich Kellner, Bernd Wissinger, Camiel J. F. Boon, Eberhart Zrenner, Sten Andréasson, Susan M Downes, Isabelle Meunier, Laura Kuehlewein, Béatrice Bocquet, M. Dominik Fischer, Saskia Biskup, Nicole Weisschuh, Frank G. Holz, Ditta Zobor, Katarina Stingl, Sandro Banfi, Barbara Wilhelm, Antje S Bernd
Publikováno v:
JAMA Ophthalmol
JAMA Ophthalmology, 138(12), 1241-1250. AMER MEDICAL ASSOC
JAMA Ophthalmology, 138(12), 1241-1250. American Medical Association
JAMA ophthalmology, 138(12), 1241-1250. American Medical Association
JAMA Ophthalmology, 138(12), 1241-1250. AMER MEDICAL ASSOC
JAMA Ophthalmology, 138(12), 1241-1250. American Medical Association
JAMA ophthalmology, 138(12), 1241-1250. American Medical Association
Importance Treatment trials require sound knowledge on the natural course of disease. Objective To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ad2884cd4b7f1e061da43f3d8d842b
https://hdl.handle.net/1887/3184228
https://hdl.handle.net/1887/3184228
Autor:
Carl Arndt, Elsa Jozefowicz, Saddek Mohand Said, Béatrice Bocquet, Benjamin Wolff, Eric H Souied, Christian P. Hamel, Cécile Delcourt, F. Devin, Bernard Puech, M. Quaranta, Isabelle Meunier, Thibault Mura, Marie-Christine Picot, Xavier Zanlonghi, Catherine Creuzot-Garcher, José-Alain Sahel, Dominique Deplanque, Solange Milazzo, Olivia Zambrowski, Isabelle Audo, Vasiliki Kalatzis, Nour Al Dain Marzouka, Rocio Blanco Garavito, Sophie Arsène, Hassiba Oubraham, Corinne Baudoin, Pierre Gastaud, Sabine Defoort-Dhellemmes, Sarah Perez-Roustit, Annie Lacroux, Aymeric Douillard, Isabelle Drumare, Martine Mauget-Faÿsse, Valérie Gissot, Salomon Y. Cohen
Publikováno v:
Scientific Reports
Scientific Reports, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩
www.nature.com/scientificreports/
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports 1 (8), 6840. (2018)
Scientific Reports, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩
www.nature.com/scientificreports/
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports 1 (8), 6840. (2018)
EMAP (Extensive Macular Atrophy with Pseudodrusen) is a maculopathy we recently described that shares pseudodrusen and geographic atrophy with Age-related Macular Disease (AMD). EMAP differs from AMD by an earlier age of onset (50-55 years) and a cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d195dc83661517a64974759e7ad11268
https://hal.science/hal-02349434
https://hal.science/hal-02349434
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/