Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Vasily M Smirnov"'
Autor:
Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz
Publikováno v:
JAMA ophthalmology. 140(12)
ImportanceCongenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04bc8cfb1e1c7f25fcfd538eea90a7
https://pubmed.ncbi.nlm.nih.gov/36264558
https://pubmed.ncbi.nlm.nih.gov/36264558
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:
Vasily M. Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Inherited retinal diseases (IRD) are a group of heterogeneous disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants in RBP4, coding for a major blood carrier of retinol, retinol-binding protein 4, are respon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d454b6199279438e47408778e7e534e9
https://hdl.handle.net/2434/964816
https://hdl.handle.net/2434/964816
Autor:
Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo
Publikováno v:
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 2022, 63 (4), pp.25. ⟨10.1167/iovs.63.4.25⟩
Investigative Ophthalmology & Visual Science, 2022, 63 (4), pp.25. ⟨10.1167/iovs.63.4.25⟩
Biallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod-cone dystrophy (RCD). Retinal findings in Usher syndrome 3A have not been well defined. We report the detailed phenotypic description of RCD associated with CLRN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b218aee21c132b8ac7487b40da2a45ac
https://cnrs.hal.science/hal-03954493/file/Smirnov_CLRN1_IOVS_2022.pdf
https://cnrs.hal.science/hal-03954493/file/Smirnov_CLRN1_IOVS_2022.pdf
Publikováno v:
Journal Français d'Ophtalmologie. 43:e311-e315
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9ce6b1199ca9227588520d47d569714
https://doi.org/10.1016/j.jfo.2020.01.016
https://doi.org/10.1016/j.jfo.2020.01.016
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:
Mickael Denis, Jean-Philippe Woillez, Vasily M. Smirnov, Elodie Drumez, Julien Lannoy, Julie Boucher, Mickael Zedet, Jean-Pierre Pruvo, Julien Labreuche, Helene Zephir, Xavier Leclerc, Olivier Outteryck
Publikováno v:
Neurology® Neuroimmunology & Neuroinflammation
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and ObjectivesAcute optic neuritis (ON) is a classical presenting symptom of multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and anti–MOG-associated disorders. The resulting visual impairment is variable and can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c77981fcce68166aabaa371bc3cc6e2
http://europepmc.org/articles/PMC8802684
http://europepmc.org/articles/PMC8802684
Publikováno v:
JAMA ophthalmology. 139(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39df2f09f5c86ebde6e82a8b2be39255
https://pubmed.ncbi.nlm.nih.gov/34709366
https://pubmed.ncbi.nlm.nih.gov/34709366
Autor:
Claire-Marie Dhaenens, Vasily M. Smirnov, Sabine Defoort-Dhellemmes, Caroline Marks, Isabelle Drumare
Publikováno v:
Ophthalmic Genetics. 40:365-368
Background: Posterior pole staphylomata (PSS) is an outward bulging of ocular wall, rarely reported in association with inherited retinal degenerations.Patients and methods: We report a lar...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2c9e90d1a921671e8f0fdc3cdcf3375
https://doi.org/10.1080/13816810.2019.1655771
https://doi.org/10.1080/13816810.2019.1655771