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

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

EGFLAM致病变异与先天性静止性夜盲症

Boranijasevic, Sanja; Smirnov, Vasily; Navarro, Julien; Tjon-Fo-Sang, Martha; Condroyer, Christel; Haer-Wigman, Lonneke; Antonio, Aline; Dhaenens, Claire-Marie; Verhoeven, Virginie J M; Sahel, José-Alain; van den Born, L Ingeborgh; Defoort, Sabine; Audo, Isabelle; Zeitz, Christina

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy

RP1L1相关视网膜病变的表型和基因型特征

Antropoli, Alessio; Bianco, Lorenzo; Zanlonghi, Xavier; Benadji, Amine; Condroyer, Christel; Antonio, Aline; Navarro, Julien; Dhaenens, Claire-Marie; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration

纤毛病基因CFAP410的编码区和非编码区变异会导致早发性非综合征性视网膜变性。

Sangermano, Riccardo; Gupta, Priya; Price, Cherrell; Han, Jinu; Navarro, Julien; Condroyer, Christel; Place, Emily M; Antonio, Aline; Mukai, Shizuo; Zanlonghi, Xavier; Sahel, José-Alain; DiTroia, Stephanie; O'Heir, Emily; Duncan, Jacque L; Pierce, Eric A; Zeitz, Christina; Audo, Isabelle; Huckfeldt, Rachel M; Bujakowska, Kinga M

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration

纤毛病基因CFAP410的编码区和非编码区变异会导致早发性非综合征性视网膜变性。

Sangermano, Riccardo; Gupta, Priya; Price, Cherrell; Han, Jinu; Navarro, Julien; Condroyer, Christel; Place, Emily M; Antonio, Aline; Mukai, Shizuo; Zanlonghi, Xavier; Sahel, José-Alain; Duncan, Jacque L; Pierce, Eric A; Zeitz, Christina; Audo, Isabelle; Huckfeldt, Rachel M; Bujakowska, Kinga M

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells

VSX2 错义变异与一种影响所有双极细胞的特殊形式的先天性静止性夜盲症相关

Smirnov, Vasily M; Robert, Matthieu P; Condroyer, Christel; Navarro, Julien; Antonio, Aline; Rozet, Jean-Michel; Sahel, José-Alain; Perrault, Isabelle; Audo, Isabelle; Zeitz, Christina

Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy

简单的事情带来巨大的好处:高剂量维生素 A 可改善 RBP4 相关的视网膜营养不良

Vasily M Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

RPGR 相关视锥细胞和视锥杆细胞营养不良症的回顾性自然史研究,同时扩大该疾病的突变谱

Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort

法国视网膜色素变性患者队列中由CLN3致病变异引起的孤立性视网膜变性的视网膜表型

Smirnov, Vasily M; Nassisi, Marco; Solis Hernandez, Cyntia; Méjécase, Cécile; El Shamieh, Said; Condroyer, Christel; Antonio, Aline; Meunier, Isabelle; Andrieu, Camille; Defoort-Dhellemmes, Sabine; Mohand-Said, Saddek; Sahel, José-Alain; Audo, Isabelle; Zeitz, Christina

First identification of ITM2B interactome in the human retina

首次鉴定出人类视网膜中的 ITM2B 相互作用组

J Wohlschlegel, M Argentini, C Michiels, C Letellier, V Forster, C Condroyer, Z He, G Thuret, C Zeitz, T Léger, I Audo