Simonelli F - Search Results

1

Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding.

Di Iorio V, Mozzillo E, Rosanio FM, Di Candia F, Genesio R, Testa F, Iovino C, Franzese A, Simonelli F. Di Iorio V, et al. Among authors: simonelli f. Front Pediatr. 2021 Apr 29;9:661434. doi: 10.3389/fped.2021.661434. eCollection 2021. Front Pediatr. 2021. PMID: 33996696 Free PMC article.

2

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. de Crecchio G, et al. Among authors: simonelli f. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343

3

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

4

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. Simonelli F, et al. Invest Ophthalmol Vis Sci. 2000 Mar;41(3):892-7. Invest Ophthalmol Vis Sci. 2000. PMID: 10711710

5

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. Simonelli F, et al. Ophthalmic Res. 2004 Mar-Apr;36(2):82-8. doi: 10.1159/000076886. Ophthalmic Res. 2004. PMID: 15017103

6

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.

7

Genotype-phenotype correlation in Italian families with Stargardt disease.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Allikmets R, Rinaldi E. Simonelli F, et al. Ophthalmic Res. 2005 May-Jun;37(3):159-67. doi: 10.1159/000086073. Epub 2005 May 7. Ophthalmic Res. 2005. PMID: 15942264

8

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. Testa F, et al. Among authors: simonelli f. Eur J Ophthalmol. 2006 Sep-Oct;16(5):779-81. doi: 10.1177/112067210601600524. Eur J Ophthalmol. 2006. PMID: 17061239

9

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. Sodi A, et al. Among authors: simonelli f. J Fr Ophtalmol. 2007 Jun;30(6):616-20. doi: 10.1016/s0181-5512(07)89667-7. J Fr Ophtalmol. 2007. PMID: 17646752

10

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. Simonelli F, et al. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218

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