Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Retinal Degeneration and ABCA4[original query] |
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| Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21. Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad |
| Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology 2015 Feb 122 (2): 335-44. Lambertus Stanley, van Huet Ramon A C, Bax Nathalie M, Hoefsloot Lies H, Cremers Frans P M, Boon Camiel J F, Klevering B Jeroen, Hoyng Carel |
| Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Investigative ophthalmology & visual science 2016 Sep 57 (11): 4668-78. Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew |
| 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 |
| Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
| Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic genetics 2017 Sep 1-7. Villanueva Adda, Biswas Pooja, Kishaba Kameron, Suk John, Tadimeti Keerti, Raghavendra Pongali B, Nadeau Karine, Lamontagne Bruno, Busque Lambert, Geoffroy Steve, Mongrain Ian, Asselin Géraldine, Provost Sylvie, Dubé Marie-Pierre, Nudleman Eric, Ayyagari Rad |
| Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. Genes 2019 11 10 (12): . Tracewska Anna M, Kocy?a-Karczmarewicz Beata, Rafalska Agnieszka, Murawska Joanna, Jakubaszko-Jablonska Joanna, Rydzanicz Ma?gorzata, Stawi?ski Piotr, Ciara El?bieta, Khan Muhammad Imran, Henkes Arjen, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Cremers Frans P M, P?oski Rafa?, Chrzanowska Krystyna |
| Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS genetics 2022 3 18 (3): e1010129. Zernant Jana, Lee Winston, Wang Jun, Goetz Kerry, Ullah Ehsan, Nagasaki Takayuki, Su Pei-Yin, Fishman Gerald A, Tsang Stephen H, Tumminia Santa J, Brooks Brian P, Hufnagel Robert B, Chen Rui, Allikmets Ran |
| Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants. Molecular genetics and genomics : MGG 2024 8 299 (1): 79. Oscar F Chacon-Camacho, Nancy Xilotl-de Jesús, Ernesto Calderón-Martínez, Vianey Ordoñez-Labastida, M Isabel Neria-Gonzalez, Rocío Villafuerte-de la Cruz, Augusto Martinez-Rojas, Juan Carlos Zente |
| 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 |
- Page last reviewed:Feb 1, 2024
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