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TÃTULO: The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
AUTORES: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLICAÇÃO: 2023, FONTE: PNAS NEXUS, VOLUME: 2, NÚMERO: 3

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TÃTULO: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTORES: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; Claire E L Smith; Hannie Kremer; Susan Downes; Graeme C Black; Andrew R Webster; Chris F Inglehearn; Ingeborgh I van den Born; Robert K Koenekoop; Michel Michaelides; Raj S Ramesar; Carel B Hoyng; Stefan Mundlos; Musa M Mhlanga; Frans P M Cremers; Michael E Cheetham; Susanne Roosing; Alison J Hardcastle; ...Mais
PUBLICAÇÃO: 2020, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, NÚMERO: 5

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TÃTULO: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTORES: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLICAÇÃO: 2019, FONTE: GENETICS IN MEDICINE, VOLUME: 21, NÚMERO: 12

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TÃTULO: Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice Full Text
AUTORES: Abigail R Moye; Nicola Bedoni; Jessica G Cunningham; Urikhan Sanzhaeva; Eric S Tucker; Peter Mathers; Virginie G Peter; Mathieu Quinodoz; Liliana P Paris; Luisa Coutinho Santos; Pedro Camacho; Madeleine G Purcell; Abbie C Winkelmann; James A Foster; Elena N Pugacheva; Carlo Rivolta; Visvanathan Ramamurthy;
PUBLICAÇÃO: 2019, FONTE: PLOS GENETICS, VOLUME: 15, NÚMERO: 8

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TÃTULO: PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease
AUTORES: Hamid Azzedine; Petra Zavadakova; Violaine Plante Bordeneuve; Maria Vaz Pato; Nuno Pinto; Luca Bartesaghi; Jennifer Zenker; Olivier Poirot; Nathalie Bernard Marissal; Estelle Arnaud Gouttenoire; Romain Cartoni; Alexandra Title; Giulia Venturini; Jean Jacques Medard; Edward Makowski; Ludger Schoels; Kristl G Claeys; Claudia Stendel; Andreas Roos; Joachim Weis; Odile Dubourg; Jose Leal Loureiro ; Giovanni Stevanin; Gerard Said; Anthony Amato; Jay Baraban; Eric LeGuern; Jan Senderek; Carlo Rivolta; Roman Chrast; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 22, NÚMERO: 20

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TÃTULO: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-beta Signaling Pathways Full Text
AUTORES: Toshiyuki Fukada; Natacha Civic; Tatsuya Furuichi; Shinji Shimoda; Kenji Mishima; Hiroyuki Higashiyama; Yayoi Idaira; Yoshinobu Asada; Hiroshi Kitamura; Satoru Yamasaki; Shintaro Hojyo; Manabu Nakayama; Osamu Ohara; Haruhiko Koseki; Heloisa G dos Santos; Luisa Bonafe; Russia Ha Vinh; Andreas Zankl; Sheila Unger; Marius E Kraenzlin; Jacques S Beckmann; Ichiro Saito; Carlo Rivolta; Shiro Ikegawa; Andrea Superti Furga; Toshio Hirano; ...Mais
PUBLICAÇÃO: 2008, FONTE: PLOS ONE, VOLUME: 3, NÚMERO: 11

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