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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG, Luna JD, Labat N, Yadarola MB, Bainttein S, Esposito E, Ibañez A, Barbaro EI, Álvarez Mendiara A, Picotti CP, Chirino Misisian A, Andreussi L, Gras J, Capalbo L, Visotto M, Dipierri JE, Alcoba E, Fernández Gabrielli L, Ávila S, Aucar ME, Martin DM, Ormaechea GJ, Inga ME, Francone AA, Charles M, Zompa T, Pérez PJ, Lotersztein V, Nuova PJ, Canonero IB, Mahroo OA, Michaelides M, Arno G, Daich Varela M. Schlottmann PG, et al. Among authors: mahroo oa. NPJ Genom Med. 2023 May 22;8(1):8. doi: 10.1038/s41525-023-00352-1. NPJ Genom Med. 2023. PMID: 37217489 Free PMC article.
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M. Daich Varela M, et al. Among authors: mahroo oa. Ophthalmol Retina. 2023 Oct;7(10):918-931. doi: 10.1016/j.oret.2023.06.007. Epub 2023 Jun 17. Ophthalmol Retina. 2023. PMID: 37331655 Free article.
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Among authors: mahroo oa. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
IMPG2-Related Maculopathy.
Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P. Birtel J, et al. Among authors: mahroo oa. Am J Ophthalmol. 2024 Feb;258:32-42. doi: 10.1016/j.ajo.2023.10.002. Epub 2023 Oct 6. Am J Ophthalmol. 2024. PMID: 37806544
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: mahroo oa. 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: mahroo oa. JAMA Ophthalmol. 2024 Apr 11:e240660. doi: 10.1001/jamaophthalmol.2024.0660. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 38602673
Retinal GABAergic Alterations in Adults with Autism Spectrum Disorder.
Huang Q, Ellis CL, Leo SM, Velthuis H, Pereira AC, Dimitrov M, Ponteduro FM, Wong NML, Daly E, Murphy DGM, Mahroo OA, McAlonan GM. Huang Q, et al. Among authors: mahroo oa. J Neurosci. 2024 Apr 3;44(14):e1218232024. doi: 10.1523/JNEUROSCI.1218-23.2024. J Neurosci. 2024. PMID: 38467434 Free PMC article. Clinical Trial.
143 results