Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Sabine Defoort-Dhellemmes"'
Autor:
Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients ca
Externí odkaz:
https://doaj.org/article/8fa606812b804c0a99225be600404957
Autor:
Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 1, Iss 3, Pp 100052- (2021)
Purpose: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod–cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults. Design: Retrospective cohort stu
Externí odkaz:
https://doaj.org/article/b3a7eb18fcf84de483d98e7fc8b6450f
Autor:
Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract 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)
Externí odkaz:
https://doaj.org/article/e8ec2bea4eac47d3b9bdcfc857fd9ebd
Autor:
Majida Charif, Béatrice Bocquet, Helena Huguet, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily Smirnov, Xavier Zanlonghi, Isabelle Audo, Guy Lenaers, Isabelle Meunier, Marie Christine Picot, Carl Arndt
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.18703. ⟨10.1038/s41598-021-98150-1⟩
Scientific Reports
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.18703. ⟨10.1038/s41598-021-98150-1⟩
Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28ad3171a6534c588e52fd97ff0e3aa
https://doaj.org/article/8fa606812b804c0a99225be600404957
https://doaj.org/article/8fa606812b804c0a99225be600404957
Autor:
Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques
Publikováno v:
Genes; Volume 14; Issue 4; Pages: 830
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3620920bea4e1a1f30a07e29f1814cc8
https://doi.org/10.3390/genes14040830
https://doi.org/10.3390/genes14040830
Autor:
C. Jarrett, C. Marks-Delesalle, Vasily M. Smirnov, Sabine Defoort-Dhellemmes, P. Debruyne, Claire-Marie Dhaenens
Publikováno v:
Journal Français d'Ophtalmologie. 44:1471-1473
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6db62bedc548bf5c14dac1cc56af4dec
https://doi.org/10.1016/j.jfo.2021.01.019
https://doi.org/10.1016/j.jfo.2021.01.019
Publikováno v:
Journal Français d'Ophtalmologie. 44:e483-e485
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a018e6a9f8f812f0e9a307d56aeffb04
https://doi.org/10.1016/j.jfo.2021.05.004
https://doi.org/10.1016/j.jfo.2021.05.004
Autor:
Anaïs F, Poncet, Olivier, Grunewald, Veronika, Vaclavik, Isabelle, Meunier, Isabelle, Drumare, Valérie, Pelletier, Béatrice, Bocquet, Margarita G, Todorova, Anne-Gaëlle, Le Moing, Aurore, Devos, Daniel F, Schorderet, Florence, Jobic, Sabine, Defoort-Dhellemmes, Hélène, Dollfus, Vasily M, Smirnov, Claire-Marie, Dhaenens
Publikováno v:
International journal of molecular sciences. 23(8)
Biallelic gene defects in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::28e61862564a361a48adbb420b6e9bb9
https://pubmed.ncbi.nlm.nih.gov/35457110
https://pubmed.ncbi.nlm.nih.gov/35457110
Autor:
Meunier, Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle
Publikováno v:
International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 12642
Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::0b69c6bf95cf01ce7ec315f104f3f3f3
Autor:
Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 12642, p 12642 (2021)
International Journal of Molecular Sciences, Vol 22, Iss 12642, p 12642 (2021)
Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b45508441f01e5c1f2f76f83be1840b3
http://europepmc.org/articles/PMC8657784
http://europepmc.org/articles/PMC8657784