PubMed

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J.

Lancet. 2009 Nov 7;374(9701):1597-605. Epub 2009 Oct 23.PMID: 19854499 [PubMed - in process]Related articles

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

Testa F, Rossi S, Passerini I, Sodi A, Di Iorio V, Interlandi E, Della Corte M, Menchini U, Rinaldi E, Torricelli F, Simonelli F.

Br J Ophthalmol. 2008 Nov;92(11):1467-70. Epub 2008 Aug 14.PMID: 18703557 [PubMed - indexed for MEDLINE]Related articles

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.

N Engl J Med. 2008 May 22;358(21):2240-8. Epub 2008 Apr 27.PMID: 18441370 [PubMed - indexed for MEDLINE]Related articlesFree article

Cross-sections of the reaction 232Th(p,3n)230Pa for production of 230U for targeted alpha therapy.

Morgenstern A, Apostolidis C, Bruchertseifer F, Capote R, Gouder T, Simonelli F, Sin M, Abbas K.

Appl Radiat Isot. 2008 Oct;66(10):1275-80. Epub 2008 Feb 20.PMID: 18374585 [PubMed - indexed for MEDLINE]Related articles

Experimental study of excitation functions for the deuteron induced reactions 64Zn(d,2p)64Cu and 64Zn(d,alphan)61Cu using the stacked-foil technique.

Daraban L, Abbas K, Simonelli F, Adam-Rebeles R, Gibson N.

Appl Radiat Isot. 2008 Feb;66(2):261-4. Epub 2007 Sep 19.PMID: 17997322 [PubMed - indexed for MEDLINE]Related articles

An evaluation of a model for the systematic documentation of hospital based health promotion activities: results from a multicentre study.

Tønnesen H, Christensen ME, Groene O, O'Riordan A, Simonelli F, Suurorg L, Morris D, Vibe P, Himel S, Hansen PE.

BMC Health Serv Res. 2007 Sep 18;7:145.PMID: 17877788 [PubMed - indexed for MEDLINE]Related articlesFree article

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.

Simonelli F, Testa F, Marini V, Interlandi E, Rossi S, Pognuz DR, Virgili G, Garrè C, Bandello F.

Ophthalmic Res. 2007;39(5):255-9. Epub 2007 Sep 12.PMID: 17851265 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90.PMID: 17724218 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.

Sodi A, Passerini I, Simonelli F, Testa F, Menchini U, Torricelli F.

J Fr Ophtalmol. 2007 Jun;30(6):616-20.PMID: 17646752 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.

Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F.

Eur J Ophthalmol. 2006 Sep-Oct;16(5):779-81.PMID: 17061239 [PubMed - indexed for MEDLINE]Related articles

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.PMID: 16963483 [PubMed - indexed for MEDLINE]Related articlesFree article

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

Simonelli F, Frisso G, Testa F, di Fiore R, Vitale DF, Manitto MP, Brancato R, Rinaldi E, Sacchetti L.

Br J Ophthalmol. 2006 Sep;90(9):1142-5. Epub 2006 Jun 14.PMID: 16774956 [PubMed - indexed for MEDLINE]Related articlesFree article

Health promotion needs of children and adolescents in hospitals: a review.

Aujoulat I, Simonelli F, Deccache A.

Patient Educ Couns. 2006 Apr;61(1):23-32. Review.PMID: 16533675 [PubMed - indexed for MEDLINE]Related articles

Cyclotron production of 64Cu by deuteron irradiation of 64Zn.

Abbas K, Kozempel J, Bonardi M, Groppi F, Alfarano A, Holzwarth U, Simonelli F, Hofman H, Horstmann W, Menapace E, Lesetický L, Gibson N.

Appl Radiat Isot. 2006 Sep;64(9):1001-5. Epub 2006 Feb 24.PMID: 16500108 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the RDS gene in an Italian family with pattern dystrophy.

Testa F, Marini V, Rossi S, Interlandi E, Nesti A, Rinaldi M, Varano M, Garré C, Simonelli F.

Br J Ophthalmol. 2005 Aug;89(8):1066-8. No abstract available. PMID: 16024869 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garrè C, Ciccodicola A, Rinaldi E, Banfi S.

J Med Genet. 2005 Jul;42(7):e47.PMID: 15994872 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype correlation in Italian families with Stargardt disease.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Allikmets R, Rinaldi E.

Ophthalmic Res. 2005 May-Jun;37(3):159-67. Epub 2005 May 7.PMID: 15942264 [PubMed - indexed for MEDLINE]Related articles

Structure confirmation of a bioactive lactone isolated from Otoba parvifolia through the synthesis of a model compound.

Marques FA, Lenz CA, Simonelli F, Maia BH, Vellasco AP, Eberlin MN.

J Nat Prod. 2004 Nov;67(11):1939-41.PMID: 15568796 [PubMed - indexed for MEDLINE]Related articles

Genetics of diabetic retinopathy.

Simonelli F, Testa F, Bandello F.

Semin Ophthalmol. 2001 Mar;16(1):41-51. Review. No abstract available. PMID: 15487697 [PubMed - indexed for MEDLINE]Related articles

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R.

Ophthalmic Res. 2004 Mar-Apr;36(2):82-8.PMID: 15017103 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mutat. 2003 Nov;22(5):395-403.PMID: 14517951 [PubMed - indexed for MEDLINE]Related articles

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto MP, Ciccodicola A, Banfi S, Brancato R, Rinaldi E.

Br J Ophthalmol. 2003 Sep;87(9):1130-4.PMID: 12928282 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Lavorgna G, Lestingi M, Ziviello C, Testa F, Simonelli F, Manitto MP, Brancato R, Ferrari M, Rinaldi E, Ciccodicola A, Banfi S.

Biochem Biophys Res Commun. 2003 Aug 29;308(3):414-21.PMID: 12914764 [PubMed - indexed for MEDLINE]Related articles

Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S, Ciccodicola A.

Gene. 2002 Sep 4;297(1-2):33-8.PMID: 12384283 [PubMed - indexed for MEDLINE]Related articles

Reliability of two calculation codes for efficiency calibrations of HPGe detectors.

Abbas K, Simonelli F, D'Alberti F, Forte M, Stroosnijder MF.

Appl Radiat Isot. 2002 May;56(5):703-9.PMID: 11993945 [PubMed]Related articles

Serum oxidative and antioxidant parameters in a group of Italian patients with age-related maculopathy.

Simonelli F, Zarrilli F, Mazzeo S, Verde V, Romano N, Savoia M, Testa F, Vitale DF, Rinaldi M, Sacchetti L.

Clin Chim Acta. 2002 Jun;320(1-2):111-5.PMID: 11983208 [PubMed - indexed for MEDLINE]Related articles

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.

Eur J Hum Genet. 2002 Mar;10(3):197-203.PMID: 11973624 [PubMed - indexed for MEDLINE]Related articlesFree article

Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population.

Simonelli F, Margaglione M, Testa F, Cappucci G, Manitto MP, Brancato R, Rinaldi E.

Ophthalmic Res. 2001 Nov-Dec;33(6):325-8.PMID: 11721184 [PubMed - indexed for MEDLINE]Related articles

Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration.

Sauer CG, White K, Stöhr H, Grimm T, Hutchinson A, Bernstein PS, Lewis RA, Simonelli F, Pauleikhoff D, Allikmets R, Weber BH.

Br J Ophthalmol. 2001 Aug;85(8):969-75.PMID: 11466257 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A.

Hum Mutat. 2001 Aug;18(2):109-19.PMID: 11462235 [PubMed - indexed for MEDLINE]Related articles

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

Simonelli F, Testa F, de Crecchio G, Rinaldi E, Hutchinson A, Atkinson A, Dean M, D'Urso M, Allikmets R.

Invest Ophthalmol Vis Sci. 2000 Mar;41(3):892-7.PMID: 10711710 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A.

Eur J Hum Genet. 1999 Sep;7(6):687-94.PMID: 10482958 [PubMed - indexed for MEDLINE]Related articlesFree 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.

Ophthalmic Genet. 1999 Jun;20(2):121-6.PMID: 10420198 [PubMed - indexed for MEDLINE]Related articles

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P.

Clin Genet. 1998 Oct;54(4):315-20.PMID: 9831343 [PubMed - indexed for MEDLINE]Related articles

Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.

Simonelli F, Rinaldi M, Nesti A, Testa F, Rinaldi E, Ciccodicola A, Flagiello L, Miano MG, Ventruto V, D'Urso M.

Br J Ophthalmol. 1998 Jun;82(6):709. No abstract available. PMID: 9797678 [PubMed - indexed for MEDLINE]Related articlesFree article

Evaluation of fatty acids in membrane phospholipids of erythrocytes in retinitis pigmentosa patients.

Simonelli F, Manna C, Romano N, Nunziata G, Voto O, Rinaldi E.

Ophthalmic Res. 1996;28(2):93-8.PMID: 8792359 [PubMed - indexed for MEDLINE]Related articles

Fatty acid composition of membrane phospholipids of cataractous human lenses.

Simonelli F, Libondi T, Romano N, Nunziata G, D'Aloia A, Rinaldi E.

Ophthalmic Res. 1996;28 Suppl 1:101-4.PMID: 8727977 [PubMed - indexed for MEDLINE]Related articles

Senile cataractic lenses do not accumulate galactitol in either lactose tolerant or intolerant subjects.

Wacker H, Soldati L, Simonelli F, Richter C, Gazzaniga A, Auricchio S, Semenza G.

Clin Chim Acta. 1993 Oct 29;220(1):115-8. No abstract available. PMID: 8287555 [PubMed - indexed for MEDLINE]Related articles

Galactokinase activity in patients with idiopathic presenile and senile cataract.

Simonelli F, Giovane A, Frunzio S, Balestrieri P, Amicone A, Rinaldi M, Cotticelli L, Rinaldi E.

Metab Pediatr Syst Ophthalmol. 1992;15(4):53-6.PMID: 1305705 [PubMed - indexed for MEDLINE]Related articles

Cataract risk factors: blood level of antioxidative vitamins, reduced glutathione and malondialdehyde in cataractous patients.

Libondi T, Costagliola C, Della Corte M, Facchiano F, Menzione M, Savastano S, Simonelli F, Rinaldi E, Auricchio G.

Metab Pediatr Syst Ophthalmol. 1991;14(2):31-6.PMID: 1369641 [PubMed - indexed for MEDLINE]Related articles

Systemic human diseases as oxidative risk factors in cataractogenesis. II. Chronic renal failure.

Costagliola C, Iuliano G, Menzione M, Simonelli F, Tortori A, Masturzi B, di Benedetto A, Rinaldi E.

Exp Eye Res. 1990 Dec;51(6):631-5.PMID: 2265673 [PubMed - indexed for MEDLINE]Related articles

[Possible role of altered levels of plasma docosahexaenoic acid in the pathogenesis of retinitis pigmentosa. Preliminary results]

Simonelli F, Milone A, Iura A, Picardi C, La Banca AM, Cotticelli L, Rinaldi E.

Boll Soc Ital Biol Sper. 1990 Sep;66(9):893-8. Italian. PMID: 2149985 [PubMed - indexed for MEDLINE]Related articles

[Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study]

Simonelli F, Frunzio S, Rinaldi M, Balestrieri P, Giovane A, Cotticelli L, Rinaldi E.

Boll Soc Ital Biol Sper. 1990 Sep;66(9):887-92. Italian. PMID: 2073390 [PubMed - indexed for MEDLINE]Related articles

[Hydrogen peroxide in the aqueous humor and cataract formation in human diabetes]

Simonelli F, Pensa M, Teramo P, Amicone A, Russo P, Perillo F, Cotticelli L, Rinaldi E.

Boll Soc Ital Biol Sper. 1990 Sep;66(9):879-85. Italian. PMID: 2073389 [PubMed - indexed for MEDLINE]Related articles

The decrease of free epsilon-amino groups in senile and diabetic cataracts.

Simonelli F, Cotticelli L, Iura A, Manna C, Nesti A, Rinaldi E, Auricchio G.

Ophthalmic Res. 1990;22(3):160-5.PMID: 2385432 [PubMed - indexed for MEDLINE]Related articles

[Lipid peroxidation and cataract formation in experimental diabetes]

Simonelli F, Cotticelli L, Pensa M, Teramo P, Acampora A, Rinaldi E.

Boll Soc Ital Biol Sper. 1989 Aug;65(8):759-65. Italian. PMID: 2803739 [PubMed - indexed for MEDLINE]Related articles

Lipid peroxidation and human cataractogenesis in diabetes and severe myopia.

Simonelli F, Nesti A, Pensa M, Romano L, Savastano S, Rinaldi E, Auricchio G.

Exp Eye Res. 1989 Aug;49(2):181-7.PMID: 2767166 [PubMed - indexed for MEDLINE]Related articles

[Role of the non-enzymatic glycosylation of protein in the formation of human cataracts]

Simonelli F, Pensa M, Rinaldi E.

Boll Soc Ital Biol Sper. 1989 Apr;65(4):351-6. Italian. PMID: 2505814 [PubMed - indexed for MEDLINE]Related articles

Cataract formation in patients with lactose and galactose disorders.

Simonelli F, Nesti A, Picardi A, Napoli R, De Rosa G, Lauro G, Di Meo A, Rinaldi E, Auricchio G.

Dev Ophthalmol. 1989;17:82-6. No abstract available. PMID: 2507367 [PubMed - indexed for MEDLINE]Related articles

[Aortic dissection: presentation of 4 cases with a peculiar clinical onset]

Brancato A, Gabriele F, Simonelli F, Cicali W, Banchi S, Salvadori F.

Recenti Prog Med. 1988 Apr;79(4):173-5. Italian. No abstract available. PMID: 3393728 [PubMed - indexed for MEDLINE]Related articles