日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

通过对驱动复杂性小眼畸形的调控变异的研究,深入了解 FOXE3 转录网络和疾病机制

Plaisancié Julie, Angée Clémentine, Erjavec Elisa, Raymond-Letron Isabelle, Douet Jean-Yves, Goetz Mathilde, Vincent-Delorme Catherine, Karemaker Ino D, Baltissen Marijke, Vermeulen Michiel, Valdivia Leonardo, Jabot-Hanin Fabienne, David Pierre, Hadjadj Djihad, Monsef Yanad Abou, Lyazrhi Faouzi, Calvas Patrick, Rozet Jean-Michel, Chassaing Nicolas, Fares-Taie Lucas

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

GJA8相关发育性眼病:一项新的多中心研究揭示了突变热点和基因型-表型相关性

Merepa, Solomon S; Reis, Linda M; Damián, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, María Jose; Ayuso, Carmen; Galarza, Laura Cortázar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancié, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V; Ragge, Nicola K

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

小鼠先天性小角膜缺失将 Sox21 失调与疾病联系起来,并表明 TGFB2 在青光眼和近视中发挥作用

Erjavec Elisa, Angée Clémentine, Hadjadj Djihad, Passet Bruno, David Pierre, Kostic Corinne, Dodé Emmanuel, Zanlonghi Xavier, Cagnard Nicolas, Nedelec Brigitte, Crippa Sylvain V, Bole-Feysot Christine, Zarhrate Mohammed, Creuzet Sophie, Castille Johan, Vilotte Jean-Luc, Calvas Patrick, Plaisancié Julie, Chassaing Nicolas, Kaplan Josseline, Rozet Jean-Michel, Fares Taie L

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

表观遗传标记在实践中的应用:对已发表的用于十种神经发育障碍分子诊断的表观遗传标记进行独立评估

Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans

人类 frizzled 类受体 5 的低效突变纯合子会导致综合征性眼部缺损伴小角膜

Cortés-González, Vianney; Rodriguez-Morales, Miguel; Ataliotis, Paris; Mayer, Claudine; Plaisancié, Julie; Chassaing, Nicolas; Lee, Hane; Rozet, Jean-Michel; Cavodeassi, Florencia; Fares Taie, Lucas

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

临床和基因分析进一步阐明了ALDH1A3相关性无眼症和小眼症的表型谱。

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

评估先天性眼部畸形中的体细胞和/或生殖细胞嵌合现象

Chesneau, Bertrand; Ivashchenko, Véronique; Habib, Christophe; Gaston, Véronique; Escudié, Fréderic; Morel, Godelieve; Capri, Yline; Vincent-Delorme, Catherine; Calvas, Patrick; Chassaing, Nicolas; Plaisancié, Julie

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

ARHGAP35 是人类发育性眼表型中一个被破坏的新因子

Reis, Linda M; Chassaing, Nicolas; Bardakjian, Tanya; Thompson, Samuel; Schneider, Adele; Semina, Elena V

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

更正:临床和基因分析进一步阐明了ALDH1A3相关性无眼症和小眼症的表型谱

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K