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Page 1
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S. Karali M, et al. Among authors: simonelli f. Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. Sci Rep. 2022. PMID: 36460718 Free PMC article.
Retinal degeneration associated with ectopia lentis.
Simonelli F, De Crecchio G, Testa F, Nunziata G, Mazzeo S, Romano N, Cavaliere L, Rinaldi MM, Rinaldi E. Simonelli F, et al. Ophthalmic Genet. 1999 Jun;20(2):121-6. doi: 10.1076/opge.20.2.121.2292. Ophthalmic Genet. 1999. PMID: 10420198
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Among authors: simonelli f. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R. Jaakson K, et al. Among authors: simonelli f. Hum Mutat. 2003 Nov;22(5):395-403. doi: 10.1002/humu.10263. Hum Mutat. 2003. PMID: 14517951
Genetics of diabetic retinopathy.
Simonelli F, Testa F, Bandello F. Simonelli F, et al. Semin Ophthalmol. 2001 Mar;16(1):41-51. doi: 10.1076/soph.16.1.41.4219. Semin Ophthalmol. 2001. PMID: 15487697 Review. No abstract available.
252 results