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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1953 1
1954 1
1961 1
1966 1
1973 1
1981 1
1982 1
1985 1
1987 2
1991 2
1995 1
1996 3
1998 3
1999 8
2000 4
2001 7
2002 5
2003 5
2004 7
2005 5
2006 4
2007 7
2008 6
2009 5
2010 6
2011 12
2012 7
2013 9
2014 12
2015 7
2016 15
2017 19
2018 12
2019 12
2020 13
2021 19
2022 19
2023 19
2024 7

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245 results

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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: testa f. Sci Rep. 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. Sci Rep. 2022. PMID: 36460718 Free PMC article.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: testa f. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Maguire AM, et al. Among authors: testa f. N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27. N Engl J Med. 2008. PMID: 18441370 Free PMC article. Clinical Trial.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: testa f. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M. Carrera P, et al. Among authors: testa f. Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850. Sci Rep. 2016. PMID: 27499327 Free PMC article.
ADPKD current management and ongoing trials.
Testa F, Magistroni R. Testa F, et al. J Nephrol. 2020 Apr;33(2):223-237. doi: 10.1007/s40620-019-00679-y. Epub 2019 Dec 18. J Nephrol. 2020. PMID: 31853789 Review.
A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F. Murro V, et al. Among authors: testa f. Orphanet J Rare Dis. 2023 Jul 31;18(1):223. doi: 10.1186/s13023-023-02798-z. Orphanet J Rare Dis. 2023. PMID: 37525225 Free PMC article. Review.
Vitreous substitutes: the present and the future.
Donati S, Caprani SM, Airaghi G, Vinciguerra R, Bartalena L, Testa F, Mariotti C, Porta G, Simonelli F, Azzolini C. Donati S, et al. Among authors: testa f. Biomed Res Int. 2014;2014:351804. doi: 10.1155/2014/351804. Epub 2014 May 4. Biomed Res Int. 2014. PMID: 24877085 Free PMC article. Review.
Antioxidant defence systems in the protozoan pathogen Giardia intestinalis.
Mastronicola D, Falabella M, Forte E, Testa F, Sarti P, Giuffrè A. Mastronicola D, et al. Among authors: testa f. Mol Biochem Parasitol. 2016 Mar-Apr;206(1-2):56-66. doi: 10.1016/j.molbiopara.2015.12.002. Epub 2015 Dec 7. Mol Biochem Parasitol. 2016. PMID: 26672398 Review.
245 results