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Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: arno g. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 Free article. No abstract available.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC; Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Arno G, et al. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889058 Free PMC article.
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Boobalan E, Thompson AH, Alur RP, McGaughey DM, Dong L, Shih G, Vieta-Ferrer ER, Onojafe IF, Kalaskar VK, Arno G, Lotery AJ, Guan B, Bender C, Memon O, Brinster L, Soleilhavoup C, Panman L, Badea TC, Minella A, Lopez AJ, Thomasy SM, Moshiri A, Blain D, Hufnagel RB, Cogliati T, Bharti K, Brooks BP. Boobalan E, et al. Among authors: arno g. Invest Ophthalmol Vis Sci. 2022 Nov 1;63(12):5. doi: 10.1167/iovs.63.12.5. Invest Ophthalmol Vis Sci. 2022. PMID: 36326727 Free PMC article.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: arno g. Brain. 2024 May 13:awae055. doi: 10.1093/brain/awae055. Online ahead of print. Brain. 2024. PMID: 38735647
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.
Mishra AV, Vermeirsch S, Lin S, Martin-Gutierrez MP, Simcoe M, Pontikos N, Schiff E, de Guimarães TAC, Hysi PG, Michaelides M, Arno G, Webster AR, Mahroo OA. Mishra AV, et al. Among authors: arno g. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):9. doi: 10.1167/iovs.65.5.9. Invest Ophthalmol Vis Sci. 2024. PMID: 38700873 Free PMC article.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group. Cornelis SS, et al. Among authors: arno g. JAMA Ophthalmol. 2024 Apr 11:e240660. doi: 10.1001/jamaophthalmol.2024.0660. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 38602673
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Bauwens M, et al. Among authors: arno g. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272031
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
Fujinami-Yokokawa Y, Joo K, Liu X, Tsunoda K, Kondo M, Ahn SJ, Robson AG, Naka I, Ohashi J, Li H, Yang L, Arno G, Pontikos N, Park KH, Michaelides M, Tachimori H, Miyata H, Sui R, Woo SJ, Fujinami K; East Asia Inherited Retinal Disease Society Study Group*. Fujinami-Yokokawa Y, et al. Among authors: arno g. Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):41. doi: 10.1167/iovs.65.1.41. Invest Ophthalmol Vis Sci. 2024. PMID: 38265784 Free PMC article.
175 results