未登录 GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle 分享 收藏
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy Gerber, Sylvie; Lessard, Lola; Rouzier, Cecile; Saadi, Samira Ait-el-Mkadem; Ameli, Roxana; Thobois, Stephane; Abouaf, Lucie; Bouhour, Francoise; Kaplan, Josseline; Putoux, Audrey; Pegat, Antoine; Rozet, Jean-Michel 分享 收藏
分享 收藏
Management of albinism: French guidelines for diagnosis and care Moreno-Artero, E.; Morice-Picard, F.; Bremond-Gignac, D.; Drumare-Bouvet, I; Duncombe-Poulet, C.; Leclerc-Mercier, S.; Dufresne, H.; Kaplan, J.; Jouanne, B.; Arveiler, B.; Taieb, A.; Hadj-Rabia, S. 分享 收藏
Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ... Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; van der Ven, Amelie T.; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino, V; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas; Wittig, Ilka; Prokisch, Holger 分享 收藏
Dopachrome tautomerase variants in patients with oculocutaneous albinism 眼皮肤白化病患者的Dopachrome互变异构酶变体 Pennamen, Perrine; Tingaud-Sequeira, Angele; Gazova, Iveta; Keighren, Margaret; McKie, Lisa; Marlin, Sandrine; Gherbi Halem, Souad; Kaplan, Josseline; Delevoye, Cedric; Lacombe, Didier; Plaisant, Claudio; Michaud, Vincent; Lasseaux, Eulalie; Javerzat, Sophie; Jackson, Ian; Arveiler, Benoit 分享 收藏
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement (vol 106, pg 859, 2020) Mechaussier, Sabrina; Almoallem, Basamat; Zeitz, Christina; Van Schil, Kristof; Jeddawi, Laila; Van Dorpe, Jo; Rey, Alfredo Duenas; Condroyer, Christel; Pelle, Olivier; Polak, Michel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Cavallin, Mara; Bacquet, Jean-Louis; Mouallem-Beziere, Alexandra; Zambrowski, Olivia; Sahel, Jose Alain; Audo, Isabelle; Kaplan, Josseline; Rozet, Jean-Michel; De Baere, Elfride; Perrault, Isabelle 分享 收藏
Confirmation ofFZD5implication in a cohort of 50 patients with ocular coloboma Aubert-Mucca, Marion; Pernin-Grandjean, Julie; Marchasson, Sebastien; Gaston, Veronique; Habib, Christophe; Meunier, Isabelle; Sigaudy, Sabine; Kaplan, Josseline; Roche, Olivier; Denis, Daniele; Bitoun, Pierre; Haye, Damien; Verloes, Alain; Calvas, Patrick; Chassaing, Nicolas; Plaisancie, Julie 分享 收藏
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement Mechaussier, Sabrina; Almoallem, Basamat; Zeitz, Christina; Van Schil, Kristof; Jeddawi, Laila; Van Dorpe, Jo; Rey, Alfredo Duenas; Condroyer, Christel; Pelle, Olivier; Polak, Michel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Cavallin, Mara; Bacquet, Jean-Louis; Mouallem-Beziere, Alexandra; Zambrowski, Olivia; Sahel, Jose Alain; Audo, Isabelle; Kaplan, Josseline; Rozet, Jean-Michel; De Baere, Elfride; Perrault, Isabelle 分享 收藏
Reply: The expanding neurological phenotype of DNMIL-related disorders Gerber, Sylvie; Charif, Majida; Chevrollier, Arnaud; Chaumette, Tanguy; Angebault, Claire; Kane, Selma; Paris, Aurelien; Alban, Jennifer; Quiles, Melanie; Delettre, Cecile; Bonneau, Dominique; Procaccio, Vincent; Amati-Bonneau, Patrizia; Reynier, Pascal; Leruez, Stephanie; Calmon, Raphael; Boddaert, Nathalie; Funalot, Benoit; Rio, Marlene; Bouccara, Didier; Meunier, Isabelle; Sesaki, Hiromi; Kaplan, Josseline; Hamel, Christian P.; Rozet, Jean-Michel; Lenaers, Guy 分享 收藏
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease Luscan, Romain; Mechaussier, Sabrina; Paul, Antoine; Tian, Guoling; Gerard, Xavier; Defoort-Dellhemmes, Sabine; Loundon, Natalie; Audo, Isabelle; Bonnin, Sophie; LeGargasson, Jean-Francois; Dumont, Julien; Goudin, Nicolas; Garfa-Traore, Meriem; Bras, Marc; Pouliet, Aurore; Bessieres, Bettina; Boddaert, Nathalie; Sahel, Jose-Alain; Lyonnet, Stanislas; Kaplan, Josseline; Cowan, Nicholas J.; Rozet, Jean-Michel; Marlin, Sandrine; Perrault, Isabelle 分享 收藏
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS 11例hermansky-pudlak 5型综合征，轻度HPS患者的临床分子分析 Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Verloes, Alain; Perdomo-Trujillo, Yaumara; Hamel, Christian; Elcioglu, Nursel H.; Leroy, Bart; Kaplan, Josseline; Jouk, Pierre-Simon; Lacombe, Didier; Fergelot, Patricia; Morice-Picard, Fanny; Arveiler, Benoit 分享 收藏
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases Paul, Antoine; Drecourt, Anthony; Petit, Floriane; Deguine, Delphine Dupin; Vasnier, Christelle; Oufadem, Myriam; Masson, Cecile; Bonnet, Crystel; Masmoudi, Saber; Mosnier, Isabelle; Mahieu, Laurence; Bouccara, Didier; Kaplan, Josseline; Challe, Georges; Domange, Christelle; Mochel, Fanny; Sterkers, Olivier; Gerber, Sylvie; Nitschke, Patrick; Bole-Feysot, Christine; Jonard, Laurence; Gherbi, Souad; Mercati, Oriane; Ben Aissa, Ines; Lyonnet, Stanislas; Rotig, Agnes; Delahodde, Agnes; Marlin, Sandrine 分享 收藏
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission Gerber, Sylvie; Charif, Majida; Chevrollier, Arnaud; Chaumette, Tanguy; Angebault, Claire; Kane, Mariame Selma; Paris, Aurelien; Alban, Jennifer; Quiles, Melanie; Delettre, Cecile; Bonneau, Dominique; Procaccio, Vincent; Amati-Bonneau, Patrizia; Reynier, Pascal; Leruez, Stephanie; Calmon, Raphael; Boddaert, Nathalie; Funalot, Benoit; Rio, Marlene; Bouccara, Didier; Meunier, Isabelle; Sesaki, Hiromi; Kaplan, Josseline; Hamel, Christian P.; Rozet, Jean-Michel; Lenaers, Guy 分享 收藏
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy Gerber, Sylvie; Ding, Martina G.; Gerard, Xavier; Zwicker, Klaus; Zanlonghi, Xavier; Rio, Marlene; Serre, Valerie; Hanein, Sylvain; Munnich, Arnold; Rotig, Agnes; Bianchi, Lucas; Amati-Bonneau, Patrizia; Elpeleg, Orly; Kaplan, Josseline; Brandt, Ulrich; Rozet, Jean-Michel 分享 收藏
The genetic pathophysiology of dominant optic atrophy Lenaers, G.; Charif, M.; Amati-Bonneau, P.; de la Barca, J. Chao; Procaccio, V.; Gerber, S.; Kaplan, J.; Roubertie, A.; Meunier, I.; Reynier, P.; Rozet, J. M.; Hamel, C.; Bonneau, D. 分享 收藏
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome Gerber, Sylvie; Alzayady, Kamil J.; Burglen, Lydie; Bremond-Gignac, Dominique; Marchesin, Valentina; Roche, Olivier; Rio, Marlene; Funalot, Benoit; Calmon, Raphael; Durr, Alexandra; Gil-da-Silva-Lopes, Vera Lucia; Ribeiro Bittar, Maria Fernanda; Orssaud, Christophe; Heron, Benedicte; Ayoub, Edward; Berquin, Patrick; Bahi-Buisson, Nadia; Bole, Christine; Masson, Cecile; Munnich, Arnold; Simons, Matias; Delous, Marion; Dollfus, Helene; Boddaert, Nathalie; Lyonnet, Stanislas; Kaplan, Josseline; Calvas, Patrick; Yule, David I.; Rozet, Jean-Michel; Taie, Lucas Fares 分享 收藏
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration Buret, L.; Rebillard, G.; Brun, E.; Angebault, C.; Pequignot, M.; Lenoir, M.; Do-Cruzeiro, M.; Tournier, E.; Cornille, K.; Saleur, A.; Gueguen, N.; Reynier, P.; Amati-Bonneau, P.; Barakat, A.; Blanchet, C.; Chinnery, P.; Yu-Wai-Man, P.; Kaplan, J.; Roux, A-F; Van Camp, G.; Wissinger, B.; Boespflug-Tanguy, O.; Giraudet, F.; Puel, J-L; Lenaers, G.; Hamel, C.; Delprat, B.; Delettre, C. 分享 收藏
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network Chassaing, Nicolas; Davis, Erica E.; McKnight, Kelly L.; Niederriter, Adrienne R.; Causse, Alexandre; David, Veronique; Desmaison, Annaick; Lamarre, Sophie; Vincent-Delorme, Catherine; Pasquier, Laurent; Coubes, Christine; Lacombe, Didier; Rossi, Massimiliano; Dufier, Jean-Louis; Dollfus, Helene; Kaplan, Josseline; Katsanis, Nicholas; Etchevers, Heather C.; Faguer, Stanislas; Calvas, Patrick 分享 收藏
The expanding spectrum of COL2A1 gene variants IN136 patients with a skeletal dysplasia phenotype Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurelie; Them, Frederic T. M.; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Severine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, Francois; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quelin, Chloe; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Genevieve; Cormier-Daire, Valerie; Le Merrer, Martine; Genevieve, David; Touitou, Isabelle 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
