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

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy

ACO2相关显性视神经萎缩的临床和遗传谱

Beaulieu, Cléis; Bouzidi, Aymane; Desquiret-Dumas, Valérie; Dieu, Xavier; Makam, Rahul; Jurkute, Neringa; Vignal, Catherine; Philibert, Manon; Odent, Sylvie; Zanlonghi, Xavier; Latypov, Marie; Debourdeau, Eloi; Bocquet, Béatrice; Yahia, Raihane; Pons, Linda; Villard, Frédéric Pollet; Jeanjean, Luc; Verrecchia, Sarah; Froment, Caroline; Engel, Camille; Poirsier, Céline; Arndt, Carl; Dollfus, Hélène; Gohier, Philippe; Charif, Majida; Ferré, Marc; Prunier-Mirebeau, Delphine; Meunier, Isabelle; Yu-Wai-Man, Patrick; Amati-Bonneau, Patrizia; Lenaers, Guy; Smirnov, Vasily

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women

RPGRorf15纳米孔长读长测序技术可提高男性和女性视网膜色素变性的分子诊断率

Fabard, Manon; Devos, Aurore; Poncet, Anaïs F; Meneboo, Jean-Pascal; Figeac, Martin; Villenet, Céline; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; Meunier, Isabelle; Zanlonghi, Xavier; Grunewald, Olivier; Huin, Vincent; Lecigne, Claire; Smirnov, Vasily; Dhaenens, Claire-Marie

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation

基于更新的Bestrophin-1结构-功能相关性,对大型法国队列中的新型BEST1变体进行表征

Bitan, Joan; Poncet, Anaïs F; Lecigne, Claire; Devos, Aurore; Meunier, Isabelle; Zanlonghi, Xavier; Grunewald, Olivier; Smirnov, Vasily; Dhaenens, Claire-Marie

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

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes

与主要表现为上睑下垂和眼部缺损的综合征相关的新型MYH10杂合变异体扩展了MYH10相关表型。

Scheidecker, Sophie; Bär, Séverine; Kröll-Hermi, Ariane; Delvallée, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Véronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Hélène

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

先天性静止性夜盲症患儿屈光不正特征分析:一项多中心研究

Igelman, Austin D; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Hélène; Aleman, Tomas S; Bedoukian, Emma C; O'Neil, Erin C; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; McLean, Rebecca J; Munier, Francis L; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward

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

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

LIGHTSITE II Randomized Multicenter Trial: Evaluation of Multiwavelength Photobiomodulation in Non-exudative Age-Related Macular Degeneration

LIGHTSITE II 随机多中心试验:多波长光生物调节治疗非渗出性年龄相关性黄斑变性的评估

Burton, Ben; Parodi, Maurizio Battaglia; Jürgens, Ignasi; Zanlonghi, Xavier; Hornan, Dan; Roider, Johann; Lorenz, Katrin; Munk, Marion R; Croissant, Cindy L; Tedford, Stephanie E; Walker, Michael; Ruckert, Rene; Tedford, Clark E

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

CNGB1相关视网膜色素变性伴嗅觉功能障碍综合征的多民族队列突变谱、眼部和嗅觉表型

Geada, Sara; Teixeira-Marques, Francisco; Teixeira, Bruno; Carvalho, Ana Luísa; Lousan, Nuno; Saraiva, Jorge; Murta, Joaquim; Silva, Rufino; Zanlonghi, Xavier; Defoort-Dhellemmes, Sabine; Smirnov, Vasily; Dhaenens, Claire-Marie; Blanchet, Catherine; Meunier, Isabelle; Marques, João Pedro