Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Disease and RDH12[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
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