Zobrazeno 1 - 10
of 1 823
pro vyhledávání: '"AUDO, A."'
Autor:
Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To e
Externí odkaz:
https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba
Autor:
Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily M. Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Stephanie DiTroia, Emily O’Heir, Jacque L. Duncan, Eric A. Pierce, Christina Zeitz, Isabelle Audo, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in whic
Externí odkaz:
https://doaj.org/article/9a6d74c45c7c47959cf5560f3852ea5d
Autor:
Monfort, Tual, Azzollini, Salvatore, Yacoub, Tasnim Ben, Audo, Isabelle, Reichman, Sacha, Grieve, Kate, Thouvenin, Olivier
Dynamic full-field optical coherence tomography (D-FFOCT) has recently emerged as an invaluable live label-free and non-invasive imaging modality able to image subcellular biological structures and their metabolic activity within complex 3D samples.
Externí odkaz:
http://arxiv.org/abs/2302.08839
Autor:
Andréa Amprou, Tasnim Ben Yacoub, Camille Letellier, Vincenzo Degaetano, Cécile Méjécase, Leila Azizzadeh Pormehr, Christel Condroyer, Amélie Slembrouck-Brec, Juliette Wohlschlegel, Olivier Goureau, Christina Zeitz, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103558- (2024)
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derive
Externí odkaz:
https://doaj.org/article/cfe1bf2bef494c38813b8b13c8c4cb1d
Autor:
Bianco, Lorenzo, Antropoli, Alessio, Benadji, Amine, Condroyer, Christel, Antonio, Aline, Navarro, Julien, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publikováno v:
In American Journal of Ophthalmology November 2024 267:160-171
Autor:
Antropoli, Alessio, Bianco, Lorenzo, Condroyer, Christel, Antonio, Aline, Navarro, Julien, Dagostinoz, Dorothée, Benadji, Amine, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publikováno v:
In Ophthalmology October 2024 131(10):1175-1184
Autor:
Iannopollo, Gianmarco, Cocco, Marta, Leone, Alessandro, Saccà, Salvatore, Mangino, Domenico, Picchi, Andrea, Reccia, Matteo Rocco, Fineschi, Massimo, Meliga, Emanuele, Audo, Andrea, Nobile, Giampiero, Tumscitz, Carlo, Penzo, Carlo, Saia, Francesco, Rubboli, Andrea, Moretti, Carolina, Vignali, Luigi, Niccoli, Giampaolo, Cimaglia, Paolo, Rognoni, Andrea, Aschieri, Daniela, Iaccarino, Daniele, Ottani, Filippo, Cavazza, Caterina, Varbella, Ferdinando, Secco, Gioel Gabrio, Bolognese, Leonardo, Limbruno, Ugo, Guiducci, Vincenzo, Campo, Gianluca, Casella, Gianni
Publikováno v:
In American Heart Journal February 2025 280:7-17
Autor:
Antropoli, Alessio, Bianco, Lorenzo, Romano, Francesco, Trinco, Andrea, Arrigo, Alessandro, Benadji, Amine, Atia, Raphaël, Palacci, Oana, Dagostinoz, Dorothée, Devisme, Céline, Condroyer, Christel, Antonio, Aline, Bosello, Francesca, Casati, Stefano, Salvetti, Anna Paola, Zaffalon, Chiara, Gaudric, Alain, Sahel, José-Alain, Staurenghi, Giovanni, Bandello, Francesco, Sennlaub, Florian, Zeitz, Christina, Meunier, Isabelle, Battaglia Parodi, Maurizio, Audo, Isabelle
Publikováno v:
In Progress in Retinal and Eye Research January 2025 104
Autor:
Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M., Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, Audo, Isabelle
Publikováno v:
In Genetics in Medicine June 2024 26(6)
Autor:
Heon, Elise, Melia, Michele, Bocchino, Laura E., Samarakoon, Lassana, Duncan, Jacque L., Ayala, Allison R., Audo, Isabelle, Bradley, Chris, Cheetham, Janet K., Dagnelie, Gislin, Durham, Todd A., Hoyng, Carel B., Jain, Nieraj, Jayasundera, Kanishka T., Pennesi, Mark E., Weng, Christina Y.
Publikováno v:
In American Journal of Ophthalmology April 2024 260:200-211