Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Blindness and ABCA4[original query] |
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| Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy. Investigative ophthalmology & visual science 2003 Jul 44 (7): 2868-75. Schmidt Silke, Postel Eric A, Agarwal Anita, Allen I Coy, Walters Shaune N, De la Paz Monica A, Scott William K, Haines Jonathan L, Pericak-Vance Margaret A, Gilbert John |
| N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. Molecular vision 2007 13 1962-9. Rosenberg Thomas, Klie Flemming, Garred Peter, Schwartz Marian |
| Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
| Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. Ophthalmology 2013 Nov 120 (11): 2332-7. Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Zernant Jana, Aguirre-Lamban Jana, Cantalapiedra Diego, Avila-Fernandez Almudena, Gimenez Ascension, Lopez-Molina Maria-Isabel, Garcia-Sandoval Blanca, Blanco-Kelly Fiona, Corton Marta, Tatu Sorina, Fernandez-San Jose Patricia, Trujillo-Tiebas Maria-Jose, Ramos Carmen, Allikmets Rando, Ayuso Carm |
| 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 |
| Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent. European journal of human genetics : EJHG 2017 Mar . Lee Winston, Schuerch Kaspar, Zernant Jana, Collison Frederick T, Bearelly Srilaxmi, Fishman Gerald A, Tsang Stephen H, Sparrow Janet R, Allikmets Ran |
| Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Experimental eye research 2020 12 202 108389. Sun Zixi, Yang Lizhu, Li Hui, Zou Xuan, Wang Lei, Wu Shijing, Zhu Tian, Wei Xing, Zhong Yong, Sui Ruifa |
| Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
A genomewide association study on individuals with occludable angles identifies potential risk loci for intraocular pressure.
Journal of genetics 2021 10 100 . Chakraborty Sudipta, Sharma Anshul, Bagchi Indranil, Pal Soumen, Bhattacharyya Chandrika, Gupta Viney, Maitra Arindam, Bhattacharjee Samsiddhi, Sharma Arundhati, Sihota Ramanjit, Acharya Moulina |
- Page last reviewed:Feb 1, 2024
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