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

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

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

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

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

更正: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

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

在50例眼部缺损患者队列中证实了FZD5基因与眼部缺损的关联

Aubert-Mucca, Marion; Pernin-Grandjean, Julie; Marchasson, Sébastien; Gaston, Veronique; Habib, Christophe; Meunier, Isabelle; Sigaudy, Sabine; Kaplan, Josseline; Roche, Olivier; Denis, Danièle; Bitoun, Pierre; Haye, Damien; Verloes, Alain; Calvas, Patrick; Chassaing, Nicolas; Plaisancié, Julie

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

复发性杂合PAX6错义变异通过对DNA-蛋白质相互作用的可预测影响,导致严重的双侧小眼畸形。

Williamson, Kathleen A; Hall, H Nikki; Owen, Liusaidh J; Livesey, Benjamin J; Hanson, Isabel M; Adams, G G W; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T; Parker, Michael; Reiff, Charlotte M; Self, Jay; Tobias, Edward S; Verheij, Joke B G M; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A; FitzPatrick, David R

Lessons learned from 40 novel PIGA patients and a review of the literature

从40例新型PIGA患者中汲取的经验教训及文献综述

Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R; Moura de Souza, Carolina Fischinger; Freihuber, Cécile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R; Korff, Christian M; Kragh Hansen, Johanne; Larsen, Martin; Layet, Valérie; Lesca, Gaetan; McBride, Kim L; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H; Skinner, Steven; Szczałuba, Krzysztoł; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A; Lal, Dennis; Gardella, Elena; Bomme Ousager, Lilian; Brünger, Tobias; Helbig, Ingo; Krawitz, Peter; Møller, Rikke S