These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
172 related articles for article (PubMed ID: 27858935)
1. Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. Loo JL; Singhal S; Rukmini AV; Tow S; Amati-Bonneau P; Procaccio V; Bonneau D; Gooley JJ; Reynier P; Ferré M; Milea D Eye (Lond); 2017 Mar; 31(3):475-480. PubMed ID: 27858935 [TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants. Li H; Jones EM; Li H; Yang L; Sun Z; Yuan Z; Chen R; Dong F; Sui R Ophthalmic Genet; 2018 Oct; 39(5):569-576. PubMed ID: 29952689 [TBL] [Abstract][Full Text] [Related]
3. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. Fuhrmann N; Alavi MV; Bitoun P; Woernle S; Auburger G; Leo-Kottler B; Yu-Wai-Man P; Chinnery P; Wissinger B J Med Genet; 2009 Feb; 46(2):136-44. PubMed ID: 19181907 [TBL] [Abstract][Full Text] [Related]
4. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. Ham M; Han J; Osann K; Smith M; Kimonis V Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240 [TBL] [Abstract][Full Text] [Related]
5. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. Nakamura M; Lin J; Ueno S; Asaoka R; Hirai T; Hotta Y; Miyake Y; Terasaki H Ophthalmology; 2006 Mar; 113(3):483-488.e1. PubMed ID: 16513463 [TBL] [Abstract][Full Text] [Related]
6. First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation. Kamakari S; Koutsodontis G; Tsilimbaris M; Fitsios A; Chrousos G Mol Vis; 2014; 20():691-703. PubMed ID: 24883014 [TBL] [Abstract][Full Text] [Related]
7. Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree. Jin X; Chen YH; Liu Z; Deng Y; Li NN; Huang H; Qi M; Yi X; Zhu J Genet Mol Res; 2015 Sep; 14(3):10961-72. PubMed ID: 26400325 [TBL] [Abstract][Full Text] [Related]
8. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy. Ahuja AS; Selvam P; Vadlamudi C; Chopra H; Richter JE; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104 [TBL] [Abstract][Full Text] [Related]
9. Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy. Li Y; Deng T; Tong Y; Peng S; Dong B; He D Mol Vis; 2008; 14():2451-7. PubMed ID: 19112530 [TBL] [Abstract][Full Text] [Related]
10. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. Almind GJ; Grønskov K; Milea D; Larsen M; Brøndum-Nielsen K; Ek J BMC Med Genet; 2011 Apr; 12():49. PubMed ID: 21457585 [TBL] [Abstract][Full Text] [Related]
11. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Cohn AC; Toomes C; Potter C; Towns KV; Hewitt AW; Inglehearn CF; Craig JE; Mackey DA Am J Ophthalmol; 2007 Apr; 143(4):656-62. PubMed ID: 17306754 [TBL] [Abstract][Full Text] [Related]
12. OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy. Hamahata T; Fujimaki T; Fujiki K; Miyazaki A; Mizota A; Murakami A Jpn J Ophthalmol; 2012 Jan; 56(1):91-7. PubMed ID: 22042570 [TBL] [Abstract][Full Text] [Related]
13. A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family. Chen S; Zhang Y; Wang Y; Li W; Huang S; Chu X; Wang L; Zhang M; Liu Z Am J Ophthalmol; 2007 Jan; 143(1):186-188. PubMed ID: 17188070 [TBL] [Abstract][Full Text] [Related]
14. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970 [TBL] [Abstract][Full Text] [Related]
15. Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations. Ito Y; Nakamura M; Yamakoshi T; Lin J; Yatsuya H; Terasaki H Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4079-86. PubMed ID: 17724190 [TBL] [Abstract][Full Text] [Related]
16. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. Yen MY; Wang AG; Lin YC; Fann MJ; Hsiao KJ Ophthalmology; 2010 Feb; 117(2):392-6.e1. PubMed ID: 19969356 [TBL] [Abstract][Full Text] [Related]
17. Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation. Russo A; Delcassi L; Marchina E; Semeraro F Ophthalmic Genet; 2013; 34(1-2):69-74. PubMed ID: 22779427 [TBL] [Abstract][Full Text] [Related]
18. Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. Bolognini R; Gerth-Kahlert C; Abegg M; Bartholdi D; Mathis N; Sturm V; Gallati S; Schaller A BMC Med Genet; 2017 Feb; 18(1):22. PubMed ID: 28245802 [TBL] [Abstract][Full Text] [Related]
19. The natural history of OPA1-related autosomal dominant optic atrophy. Cohn AC; Toomes C; Hewitt AW; Kearns LS; Inglehearn CF; Craig JE; Mackey DA Br J Ophthalmol; 2008 Oct; 92(10):1333-6. PubMed ID: 18653586 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Kim JY; Hwang JM; Ko HS; Seong MW; Park BJ; Park SS Neurology; 2005 Mar; 64(6):966-72. PubMed ID: 15781809 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]