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Items: 1 to 50 of 161

1.

Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.

Maguire AM, Russell S, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, Marshall KA, McCague S, Reichert H, Davis M, Simonelli F, Leroy BP, Wright JF, High KA, Bennett J.

Ophthalmology. 2019 Sep;126(9):1273-1285. doi: 10.1016/j.ophtha.2019.06.017. Epub 2019 Jun 22.

2.

Atrial natriuretic peptide predicts disease progression and digital ulcers development in systemic sclerosis patients.

Romaniello A, Rubattu S, Gigante A, Simonelli F, Grimaldi MC, D'Angelo A, Alunni D, Sada L, Gasperini ML, Marchitti S, Volpe M, Rosato E.

J Cardiovasc Med (Hagerstown). 2019 Nov;20(11):771-779. doi: 10.2459/JCM.0000000000000852.

PMID:
31397686
3.

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Stingl K, Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Kohl S, Bonnet C, Mohand-Saïd S, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Sahel JA, Zrenner E.

Doc Ophthalmol. 2019 Oct;139(2):151-160. doi: 10.1007/s10633-019-09704-8. Epub 2019 Jul 2.

PMID:
31267413
4.

Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function.

Testa F, Di Iorio V, Gallo B, Marchese M, Nesti A, De Rosa G, Melillo P, Simonelli F.

Ophthalmic Genet. 2019 Jun;40(3):207-212. doi: 10.1080/13816810.2019.1616303. Epub 2019 May 31.

PMID:
31149861
5.

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina.

Tornabene P, Trapani I, Minopoli R, Centrulo M, Lupo M, de Simone S, Tiberi P, Dell'Aquila F, Marrocco E, Iodice C, Iuliano A, Gesualdo C, Rossi S, Giaquinto L, Albert S, Hoyng CB, Polishchuk E, Cremers FPM, Surace EM, Simonelli F, De Matteis MA, Polishchuk R, Auricchio A.

Sci Transl Med. 2019 May 15;11(492). pii: eaav4523. doi: 10.1126/scitranslmed.aav4523.

PMID:
31092694
6.

CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.

Di Iorio V, Esposito G, De Falco F, Boccia R, Fioretti T, Colucci R, De Rosa G, Melillo P, Salvatore F, Simonelli F, Testa F.

Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1547-1555. doi: 10.1167/iovs.18-25501.

PMID:
30995293
7.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F; TUDP, Brunetti-Pierri N.

Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11.

8.

Role of Ligand Conformation on Nanoparticle-Protein Interactions.

Simonelli F, Rossi G, Monticelli L.

J Phys Chem B. 2019 Feb 28;123(8):1764-1769. doi: 10.1021/acs.jpcb.8b11204. Epub 2019 Feb 14.

9.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

10.

Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

Napolitano F, Di Iorio V, Di Iorio G, Melone MAB, Gianfrancesco F, Simonelli F, Esposito T, Testa F, Sampaolo S.

Ophthalmic Genet. 2019 Feb;40(1):39-42. doi: 10.1080/13816810.2018.1558261. Epub 2018 Dec 27.

PMID:
30589377
11.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028.

12.

Nocturnal blood pressure patterns and cardiovascular outcomes in patients with masked hypertension.

Presta V, Figliuzzi I, D'Agostino M, Citoni B, Miceli F, Simonelli F, Coluccia R, Musumeci MB, Ferrucci A, Volpe M, Tocci G.

J Clin Hypertens (Greenwich). 2018 Sep;20(9):1238-1246. doi: 10.1111/jch.13361. Epub 2018 Jul 29.

13.

Usher Syndrome and Color Vision.

Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E.

Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30.

PMID:
30012035
14.

ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.

Di Iorio V, Orrico A, Esposito G, Melillo P, Rossi S, Sbordone S, Auricchio A, Testa F, Simonelli F.

Retina. 2019 Jul;39(7):1399-1409. doi: 10.1097/IAE.0000000000002151.

PMID:
29642238
15.

Visual Cortex Activation in Patients With Stargardt Disease.

Melillo P, Prinster A, Di Iorio V, Olivo G, D'Alterio FM, Cocozza S, Orrico A, Quarantelli M, Testa F, Brunetti A, Simonelli F.

Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1503-1511. doi: 10.1167/iovs.17-22900.

PMID:
29625472
16.

Achievement of multiple therapeutic targets for cardiovascular disease prevention: Retrospective analysis of real practice in Italy.

Figliuzzi I, Presta V, Citoni B, Miceli F, Simonelli F, Battistoni A, Coluccia R, Ferrucci A, Volpe M, Tocci G.

Clin Cardiol. 2018 Jun;41(6):788-796. doi: 10.1002/clc.22955. Epub 2018 Jun 5.

17.

The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.

Viggiano D, Zacchia M, Simonelli F, Di Iorio V, Anastasio P, Capasso G, De Santo NG.

G Ital Nefrol. 2018 Feb;35(Suppl 70):95-100. No abstract available.

18.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V.

PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb.

19.

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Napolitano F, Di Iorio V, Testa F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Simonelli F, Gianfrancesco F, Di Iorio G, Melone MAB, Esposito T, Sampaolo S.

Clin Genet. 2018 May;93(5):982-991. doi: 10.1111/cge.13217. Epub 2018 Mar 5.

PMID:
29364500
20.

Triple Vectors Expand AAV Transfer Capacity in the Retina.

Maddalena A, Tornabene P, Tiberi P, Minopoli R, Manfredi A, Mutarelli M, Rossi S, Simonelli F, Naggert JK, Cacchiarelli D, Auricchio A.

Mol Ther. 2018 Feb 7;26(2):524-541. doi: 10.1016/j.ymthe.2017.11.019. Epub 2017 Dec 5.

21.

Targeting and silencing of rhodopsin by ectopic expression of the transcription factor KLF15.

Botta S, de Prisco N, Marrocco E, Renda M, Sofia M, Curion F, Bacci ML, Ventrella D, Wilson C, Gesualdo C, Rossi S, Simonelli F, Surace EM.

JCI Insight. 2017 Dec 21;2(24). pii: 96560. doi: 10.1172/jci.insight.96560.

22.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP.

Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12.

23.

Standard, transepithelial and iontophoresis corneal cross-linking: clinical analysis of three surgical techniques.

Rossi S, Santamaria C, Boccia R, De Rosa L, D'Alterio FM, Simonelli F, De Rosa G.

Int Ophthalmol. 2018 Dec;38(6):2585-2592. doi: 10.1007/s10792-017-0772-3. Epub 2017 Nov 28.

PMID:
29185116
24.

Local Enhancement of Lipid Membrane Permeability Induced by Irradiated Gold Nanoparticles.

Torchi A, Simonelli F, Ferrando R, Rossi G.

ACS Nano. 2017 Dec 26;11(12):12553-12561. doi: 10.1021/acsnano.7b06690. Epub 2017 Nov 28.

PMID:
29161019
25.

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F.

Genes (Basel). 2017 Oct 20;8(10). pii: E280. doi: 10.3390/genes8100280.

26.

Novel technique for removal of persistent subretinal fluid following nondrain retinal detachment surgery.

Wong R, Orabona GD, Simonelli F, Howard C.

Taiwan J Ophthalmol. 2016 Oct-Dec;6(4):199-200. doi: 10.1016/j.tjo.2016.06.004. Epub 2016 Aug 9.

27.

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM.

Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Erratum in: Lancet. 2017 Aug 26;390(10097):848.

28.

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

Testa F, Melillo P, Rossi S, Marcelli V, de Benedictis A, Colucci R, Gallo B, Brunetti-Pierri R, Donati S, Azzolini C, Marciano E, Simonelli F.

Ophthalmic Genet. 2018 Jan-Feb;39(1):17-21. doi: 10.1080/13816810.2017.1329445. Epub 2017 Jul 13.

PMID:
28704163
29.

Wearable Improved Vision System for Color Vision Deficiency Correction.

Melillo P, Riccio D, Di Perna L, Sanniti Di Baja G, De Nino M, Rossi S, Testa F, Simonelli F, Frucci M.

IEEE J Transl Eng Health Med. 2017 May 2;5:3800107. doi: 10.1109/JTEHM.2017.2679746. eCollection 2017.

30.

Identifying fallers among ophthalmic patients using classification tree methodology.

Melillo P, Orrico A, Chirico F, Pecchia L, Rossi S, Testa F, Simonelli F.

PLoS One. 2017 Mar 23;12(3):e0174083. doi: 10.1371/journal.pone.0174083. eCollection 2017.

31.

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.

Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S.

Eur J Hum Genet. 2017 May;25(5):651-655. doi: 10.1038/ejhg.2017.23. Epub 2017 Mar 8.

32.

High Levels of Serum Ubiquitin and Proteasome in a Case of HLA-B27 Uveitis.

Rossi S, Gesualdo C, Maisto R, Trotta MC, Di Carluccio N, Brigida A, Di Iorio V, Testa F, Simonelli F, D'Amico M, Di Filippo C.

Int J Mol Sci. 2017 Feb 26;18(3). pii: E505. doi: 10.3390/ijms18030505.

33.

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F.

BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.

34.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF.

Eur J Hum Genet. 2017 Apr;25(4):461-471. doi: 10.1038/ejhg.2016.184. Epub 2017 Jan 4.

35.

Systematic screening of Retinopathy in Diabetes (REaD project): an Italian implementation campaign.

Porta M, Boscia F, Lanzetta P, Mannucci E, Menchini U, Simonelli F.

Eur J Ophthalmol. 2017 Mar 10;27(2):179-184. doi: 10.5301/ejo.5000912. Epub 2016 Nov 21.

36.

Melanocortin receptor agonists MCR1-5 protect photoreceptors from high-glucose damage and restore antioxidant enzymes in primary retinal cell culture.

Maisto R, Gesualdo C, Trotta MC, Grieco P, Testa F, Simonelli F, Barcia JM, D'Amico M, Di Filippo C, Rossi S.

J Cell Mol Med. 2017 May;21(5):968-974. doi: 10.1111/jcmm.13036. Epub 2016 Dec 20.

37.

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

Testa F, Melillo P, Bonnet C, Marcelli V, de Benedictis A, Colucci R, Gallo B, Kurtenbach A, Rossi S, Marciano E, Auricchio A, Petit C, Zrenner E, Simonelli F.

Retina. 2017 Aug;37(8):1581-1590. doi: 10.1097/IAE.0000000000001389.

PMID:
27828912
38.

Morphological and Functional Retinal Assessment in Epiretinal Membrane Surgery.

Donati S, Caprani SM, Semeraro F, Vinciguerra R, Virgili G, Testa F, Simonelli F, Azzolini C.

Semin Ophthalmol. 2017;32(6):751-758. doi: 10.1080/08820538.2016.1177097. Epub 2016 Aug 10.

PMID:
27715374
39.

Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.

Zacchia M, Zacchia E, Zona E, Capolongo G, Raiola I, Rinaldi L, Trepiccione F, Ingrosso D, Perna A, Di Iorio V, Simonelli F, Moe OW, Capasso G.

Am J Physiol Renal Physiol. 2016 Oct 1;311(4):F686-F694. doi: 10.1152/ajprenal.00224.2016. Epub 2016 Aug 3.

40.

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.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

41.

Functional improvement assessed by multifocal electroretinogram after Ocriplasmin treatment for vitreomacular traction.

Rossi S, Testa F, Melillo P, Orrico A, Della Corte M, Simonelli F.

BMC Ophthalmol. 2016 Jul 18;16:110. doi: 10.1186/s12886-016-0284-3.

42.

En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease.

Melillo P, Testa F, Rossi S, Di Iorio V, Orrico A, Auricchio A, Simonelli F.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9):OCT247-52. doi: 10.1167/iovs.15-18751.

43.

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.

Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, Auricchio A, Pierce EA, Ruggiero J, Leroy BP, Simonelli F, High KA, Maguire AM.

Lancet. 2016 Aug 13;388(10045):661-72. doi: 10.1016/S0140-6736(16)30371-3. Epub 2016 Jun 30.

44.

Intrafamilial heterogeneity of congenital optic disc pit maculopathy.

Rossi S, De Rosa G, D'Alterio FM, Orrico A, Banfi S, Testa F, Simonelli F.

Ophthalmic Genet. 2017 May-Jun;38(3):267-272. doi: 10.1080/13816810.2016.1188120. Epub 2016 Jun 8.

PMID:
27268460
45.

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A.

Am J Med Genet A. 2016 Aug;170(8):2196-9. doi: 10.1002/ajmg.a.37770. Epub 2016 Jun 3.

PMID:
27256967
46.

Rhodopsin targeted transcriptional silencing by DNA-binding.

Botta S, Marrocco E, de Prisco N, Curion F, Renda M, Sofia M, Lupo M, Carissimo A, Bacci ML, Gesualdo C, Rossi S, Simonelli F, Surace EM.

Elife. 2016 Mar 14;5:e12242. doi: 10.7554/eLife.12242.

47.

Activation of Melanocortin Receptors MC 1 and MC 5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy.

Rossi S, Maisto R, Gesualdo C, Trotta MC, Ferraraccio F, Kaneva MK, Getting SJ, Surace E, Testa F, Simonelli F, Grieco P, Merlino F, Perretti M, D'Amico M, Di Filippo C.

Mediators Inflamm. 2016;2016:7368389. doi: 10.1155/2016/7368389. Epub 2016 Jan 12.

48.

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.

Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI.

Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21.

49.

Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.

Bellingham J, Davidson AE, Aboshiha J, Simonelli F, Bainbridge JW, Michaelides M, van der Spuy J.

Invest Ophthalmol Vis Sci. 2015 Dec 1;56(13):7784-7793. doi: 10.1167/iovs.15-18092.

PMID:
26650897
50.

Cyclotron production of (43)Sc for PET imaging.

Walczak R, Krajewski S, Szkliniarz K, Sitarz M, Abbas K, Choiński J, Jakubowski A, Jastrzębski J, Majkowska A, Simonelli F, Stolarz A, Trzcińska A, Zipper W, Bilewicz A.

EJNMMI Phys. 2015 Dec;2(1):33. doi: 10.1186/s40658-015-0136-x. Epub 2015 Dec 4.

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