Ohcanbohtosat - Isabelle Audo
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Poppers-Associated Retinal Toxicity Dahkki Catherine Vignal‐Clermont, Isabelle Audo, José‐Alain Sahel, Michel Pâques
Almmustuhtton 2010Carta -
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Extensive Macular Atrophy with Pseudodrusen-like appearance Dahkki Alessio Antropoli, Lorenzo Bianco, Christel Condroyer, Aline Antonio, Julien Navarro, Dorothée Dagostinoz, Amine Benadji, José‐Alain Sahel, Christina Zeitz, Isabelle Audo
Almmustuhtton 2024Artigo -
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Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study Dahkki Catherine Vignal, Jean‐François Girmens, Isabelle Audo, Saddek Mohand Saïd, Marie‐Hélène Errera, Lise Plaine, Denis O’Shaughnessy, Magali Taiel, José‐Alain Sahel
Almmustuhtton 2021Artigo -
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<scp>LRIT</scp>3 is essential to localize <scp>TRPM</scp>1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation Dahkki Marion Neuillé, Catherine W. Morgans, Yan Cao, Elise Orhan, Christelle Michiels, José‐Alain Sahel, Isabelle Audo, Robert M. Duvoisin, Kirill A. Martemyanov, Christina Zeitz
Almmustuhtton 2015Artigo -
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Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB) Dahkki Marion Neuillé, Saïd El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie‐Elise Lancelot, Christel Condroyer, Kinga M. Bujakowska, Olivier Poch, José‐Alain Sahel, Isabelle Audo, Christina Zeitz
Almmustuhtton 2014Artigo -
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<i>MERTK</i> mutation update in inherited retinal diseases Dahkki Isabelle Audo, Saddek Mohand‐Saïd, Élise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Saïd El Shamieh, José‐Alain Sahel, Christina Zeitz
Almmustuhtton 2018Revisão -
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Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model Dahkki Elise Orhan, Deniz Dalkara, Marion Neuillé, Christophe Lechauve, Christelle Michiels, Serge Picaud, Thierry Léveillard, José‐Alain Sahel, Muna I. Naash, Matthew M. LaVail, Christina Zeitz, Isabelle Audo
Almmustuhtton 2015Artigo -
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EYS is a major gene for rod-cone dystrophies in France Dahkki Isabelle Audo, José‐Alain Sahel, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aline Antonio, Veselina Moskova‐Doumanova, Emeline F. Nandrot, Jordan Doumanov, Isabel Barragán, Guillermo Antiñolo, Shomi S. Bhattacharya, Christina Zeitz
Almmustuhtton 2010Artigo -
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Evaluation of Retinal Function and Flicker Light-Induced Retinal Vascular Response in Normotensive Patients with Diabetes without Retinopathy Dahkki A. Lecleire–Collet, Isabelle Audo, Mounir Aout, Jean‐François Girmens, R. Sofroni, Ali Erginay, Jean‐François Le Gargasson, Saddek Mohand‐Saïd, T. Méas, Pierre-Jean Guillausseau, Éric Vicaut, Michel Pâques, Pascale Massin
Almmustuhtton 2011Artigo -
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases Dahkki Isabelle Audo, Kinga M. Bujakowska, Thierry Léveillard, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean‐Paul Saraiva, Mélanie Letexier, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Almmustuhtton 2012Artigo -
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RNA-based therapies in inherited retinal diseases Dahkki Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana Maria Ferraz Sallum, Katarína Štingl, Stephen H. Tsang, Paul Yang
Almmustuhtton 2022Revisão -
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<i>CRB1</i> mutations in inherited retinal dystrophies Dahkki Kinga M. Bujakowska, Isabelle Audo, Saddek Mohand‐Saïd, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean‐Paul Saraiva, Christine Lonjou, Wassila Carpentier, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Almmustuhtton 2011Revisão -
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Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to<i>CLN3</i>Pathogenic Variants in a French Retinitis Pigmentosa Cohort Dahkki Vasily Smirnov, Marco Nassisi, Cyntia Solis Hernandez, Cécile Méjécase, Saïd El Shamieh, Christel Condroyer, Aline Antonio, Isabelle Meunier, Camille Andrieu, Sabine Defoort‐Dhellemmes, Saddek Mohand‐Saïd, José‐Alain Sahel, Isabelle Audo, Christina Zeitz
Almmustuhtton 2021Artigo -
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation Dahkki Élise Boulanger-Scemama, Saïd El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean‐Paul Saraiva, Mélanie Letexier, Eric H. Souied, Saddek Mohand‐Saïd, José‐Alain Sahel, Christina Zeitz, Isabelle Audo
Almmustuhtton 2015Artigo -
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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome Dahkki Leonardo Colombo, Paolo Enrico Maltese, Marco Castori, Saïd El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, P Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti
Almmustuhtton 2021Artigo -
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9) Dahkki Rupert W. Strauß, Beatriz Muñoz, Alexander Ho, Anamika Jha, Michel Michaelides, Artur V. Cideciyan, Isabelle Audo, David G. Birch, Amir H Hariri, Muneeswar Gupta Nittala, Srinivas R. Sadda, Sheila K. West, Hendrik P. N. Scholl
Almmustuhtton 2017Artigo -
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Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17) Dahkki Rupert W. Strauß, Alexander Ho, Anamika Jha, Kaoru Fujinami, Michel Michaelides, Artur V. Cideciyan, Isabelle Audo, David G. Birch, Srinivas R. Sadda, Michael S. Ip, Sheila K. West, Etienne M. Schönbach, Xiangrong Kong, Hendrik P. N. Scholl
Almmustuhtton 2023Artigo -
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Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial Dahkki Maria A. Parker, Dongseok Choi, Laura Erker, Mark E. Pennesi, Paul Yang, Elvira N. Chegarnov, Peter Steinkamp, Catherine L. Schlechter, Claire‐Marie Dhaenens, Saddek Mohand‐Saïd, Isabelle Audo, José‐Alain Sahel, Richard G. Weleber, David J. Wilson
Almmustuhtton 2016Artigo -
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Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue Dahkki Amélie Rodrigues, Amélie Slembrouck-Brec, Céline Nanteau, Angélique Terray, Yelyzaveta Tymoshenko, Yvrick Zagar, Sacha Reichman, Zhouhuan Xi, José‐Alain Sahel, Stéphane Fouquet, Gaël Orieux, Emeline F. Nandrot, Leah C. Byrne, Isabelle Audo, Jérôme E. Roger, Olivier Goureau
Almmustuhtton 2022Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Genetics
Gene
Medicine
Ophthalmology
Retinal
Mutation
Phenotype
Retinitis pigmentosa
Biochemistry
Internal medicine
Neuroscience
Optometry
Retinal degeneration
Macular degeneration
Missense mutation
Dystrophy
Pathology
Stargardt disease
ABCA4
Retina
Sanger sequencing
Visual acuity
Blindness
Chemistry
Computational biology
Disease
Electroretinography
Exome sequencing
Genotype