Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: RDH12[original query] |
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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. American journal of human genetics 2004 Oct 75 (4): 639-46. Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Mich |
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Molecular vision 2009 15 1781-7. Sundaresan Periasamy, Vijayalakshmi P, Thompson Stewart, Ko Audrey C, Fingert John H, Stone Edwin |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1 117 (6): 1190-8. Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PloS one 2014 9 (8): e104281. Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man |
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. Journal of ophthalmology 2015 2015 942740. Gong Bo, Wei Bo, Huang Lulin, Hao Jilong, Li Xiulan, Yang Yin, Zhou Yu, Hao Fang, Cui Zhihua, Zhang Dingding, Wang Le, Zhang Houb |
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases. Journal of human genetics 2016 Jul . Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. European journal of medical genetics 2017 Feb 60 (2): 140-147. Zolnikova Inna V, Strelnikov Vladimir V, Skvortsova Natalia A, Tanas Alexander S, Barh Debmalya, Rogatina Elena V, Egorova Irina V, Levina Darja V, Demenkova Olga N, Prikaziuk Egor G, Ivanova Marianna |
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina (Philadelphia, Pa.) 2018 Aug . Zou Xuan, Fu Qing, Fang Sha, Li Hui, Ge Zhongqi, Yang Lizhu, Xu Mingchu, Sun Zixi, Li Huajin, Li Yumei, Dong Fangtian, Chen Rui, Sui Ruifa |
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic genetics 2019 3 40 (2): 110-117. Glen W Bailey, Peterseim M Millicent W, Badilla Ramses, Znoyko Iya, Bourg Andre, Wilson Robert, Hardiman Gary, Wolff Daynna, Martinez Joaqu |
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. Ophthalmic genetics 2021 5 42 (4): 392-401. Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q |
Regional differences in genes and variants causing retinitis pigmentosa in Japan. Japanese journal of ophthalmology 2021 2 65 (3): 338-343. Koyanagi Yoshito, Akiyama Masato, Nishiguchi Koji M, Momozawa Yukihide, Kamatani Yoichiro, Takata Sadaaki, Inai Chihiro, Iwasaki Yusuke, Kumano Mikako, Murakami Yusuke, Komori Shiori, Gao Dan, Kurata Kentaro, Hosono Katsuhiro, Ueno Shinji, Hotta Yoshihiro, Murakami Akira, Terasaki Hiroko, Wada Yuko, Nakazawa Toru, Ishibashi Tatsuro, Ikeda Yasuhiro, Kubo Michiaki, Sonoda Koh-H |
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. Investigative ophthalmology & visual science 2022 8 63 (9): 24. Wang Junwen, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Yi Zhen, Jiang Yi, Li Xueqing, Jia Xiaoyun, Wang Panfeng, Jin Chenjin, Sun Wenmin, Zhang Qingjio |
New associations of serum ?-carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes. Food science & nutrition 2022 3 10 (3): 763-771. Domarkien? Ingrida, Mažeikien? Asta, Petrauskait? Guost?, Ku?inskien? Zita Aušrel?, Ku?inskas Vaidut |
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort. Ophthalmology. Retina 2023 9 . Malena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, Patricio G Schlottmann, Alejandro Álvarez Mendiara, Aníbal Francone, Rosane Guazi Resende, Luciana Capalbo, Nancy Gelvez, Greizy López, Ana M Morales-Acevedo, Rafael H Ossa, Gavin Arno, Michel Michaelides, Martha L Tamayo, Juliana Maria Ferraz Sall |
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
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