Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Meunier, Isabelle"'
Autor:
Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A., Sergeev, Yuri, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J., Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H., Taylor, John, Downes, Susan, Krawczynski, Maciej, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A., Moore, Anthony T., Duncan, Jacque L., Menendez, Beatriz, Hull, Sarah, Vincent, Andrea, Siskind, Carly E., Traboulsi, Elias I., Blackstone, Craig, Sisk, Robert, Utz, Virginia, Webster, Andrew R., Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B
Publikováno v:
bioRxiv
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies. PNPLA6 encodes Neuropathy target esterase (NTE), yet the role of NTE dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d8d44dde0f9016578599fd9e69864b3
https://europepmc.org/articles/PMC10274907/
https://europepmc.org/articles/PMC10274907/
Autor:
Meunier, Audrey, Zanlonghi, Xavier, Roux, Anne-Françoise, Fils, Jean-François, Caspers, Laure, Migeotte, Isabelle, Abramowicz, Marc, Meunier, Isabelle
Publikováno v:
Ophthalmic Genetics. 43:470-475
The c.2299delG mutation is prevalent and accounts for 24.5% USH2A pathogenic variants, with promising prospects for customized gene therapy. We compared the ocular and auditory phenotypes in a retrospective cohort of 169 Usher type 2 patients, with a
Autor:
Sanjurjo-Soriano, Carla, Erkilic, Nejla, Damodar, Krishna, Boukhaddaoui, Hassan, Diakatou, Michalitsa, Garita-Hernandez, Marcela, Mamaeva, Daria, Dubois, Gregor, Jazouli, Zhour, Jimenez-Medina, Carla, Goureau, Olivier, Meunier, Isabelle, Kalatzis, Vasiliki
Additional file 1. Supplementary Information containing details of primers and antibodies (Tables S1 and S2) used in the study, and the Figures showing the characterisation of Protocol 1 organoids (S1), the qPCR analysis of the expression of early re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05bd8cfb97f90df106414fc1dcbabde6
Autor:
Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
International Journal of Molecular Sciences, Vol 22, Iss 13294, p 13294 (2021)
International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
International Journal of Molecular Sciences, MDPI, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
International Journal of Molecular Sciences, Vol 22, Iss 13294, p 13294 (2021)
International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8735845d56c855697d7629e13c20e2c6
https://hal.archives-ouvertes.fr/hal-03503346
https://hal.archives-ouvertes.fr/hal-03503346
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:
Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin, Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
International Journal of Molecular Sciences, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
Volume 22
Issue 12
International Journal of Molecular Sciences, Vol 22, Iss 6410, p 6410 (2021)
International Journal of Molecular Sciences, MDPI, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
International Journal of Molecular Sciences, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
Volume 22
Issue 12
International Journal of Molecular Sciences, Vol 22, Iss 6410, p 6410 (2021)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::2a10189d5f7f7352678f7bd9d52af7bb
https://hal.sorbonne-universite.fr/hal-03278573/document
https://hal.sorbonne-universite.fr/hal-03278573/document
Autor:
Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian, Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki
Publikováno v:
Molecular Therapy-Methods and Clinical Development
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2020, 17, pp.156-173. ⟨10.1016/j.omtm.2019.11.016⟩
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 156-173 (2020)
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2020, 17, pp.156-173. ⟨10.1016/j.omtm.2019.11.016⟩
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 156-173 (2020)
International audience; Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by retinitis pigmentosa (RP) and hearing loss. USH is clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6da6c5ece791f862f78d471452ad6933
https://hal.umontpellier.fr/hal-03396658/file/1-s2.0-S232905011930141X-main.pdf
https://hal.umontpellier.fr/hal-03396658/file/1-s2.0-S232905011930141X-main.pdf
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:
Guillaume, Olivier, Bocquet, Béatrice, Rivolta, Carlo, Andreo, Ervann, Muller, Agnès, Hamel, Christian, Masurel, Alice, Creuzot-Garcher, Catherine P., Faivre, Laurence, Meunier, Isabelle Anne, Manes, Gael
Publikováno v:
Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)
Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), Assoc Research Vision Ophthalmology Inc., Rockville (United States), May 2020, San Francisco, France. pp.2401
Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), Assoc Research Vision Ophthalmology Inc., Rockville (United States), May 2020, San Francisco, France. pp.2401
International audience; Purpose : To characterize clinically and genetically two families with autosomal dominant retinitis pigmentosa (adRP) with new causative mutations in PRPF6, a gene described to be associated with this condition in a single stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::35807f56f387cc01a883bd57654ee50d
https://hal.inrae.fr/hal-02952248
https://hal.inrae.fr/hal-02952248
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