1. Carbonic anhydrase inhibitors in patients with X-linked retinoschisis: effects on macular morphology and function. (4th May 2019) Authors: Testa, Francesco; Di Iorio, Valentina; Gallo, Beatrice; Marchese, Mario; Nesti, Anna; De Rosa, Giuseppe; Melillo, Paolo; Simonelli, Francesca Journal: Ophthalmic genetics Issue: Volume 40:Number 3(2019) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Intrafamilial heterogeneity of congenital optic disc pit maculopathy. (4th May 2017) Authors: Rossi, Settimio; De Rosa, Giuseppe; D'Alterio, Francesco Maria; Orrico, Ada; Banfi, Sandro; Testa, Francesco; Simonelli, Francesca Journal: Ophthalmic genetics Issue: Volume 38:Number 3(2017) Page Start: 267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Early posterior vitreous detachment is associated with LAMA5 dominant mutation. (2nd January 2019) Authors: Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone, Mariarosa Anna Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone Journal: Ophthalmic genetics Issue: Volume 40:Number 1(2019) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. SP803EYE AND KIDNEY INVOLVEMENT IN WILSON'S DISEASE: A CASE OF ORGAN BLINDNESS. (13th June 2019) Authors: Viggiano, Davide; De Santo, Natale Gaspare; Simonelli, Francesca; Capasso, Giovambattista Journal: Nephrology dialysis transplantation Issue: Volume 34(2019)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. SP771HISTORY OF RENAL AND OCULAR FINDINGS IN PRIMARY HYPEROXALURIA: FROM OXALIS ACETOSELLA TO THE MULBERRY CALCULUS, CKD, RETINOPATHY AND SYSTEMIC OXALOSIS. (18th May 2018) Authors: Viggiano, Davide; Simonelli, Francesca; Capasso, Giovambattista; De Santo, Natale Journal: Nephrology dialysis transplantation Issue: Volume 33(2018)Supplement 1 Page Start: i608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. SP771HISTORY OF RENAL AND OCULAR FINDINGS IN PRIMARY HYPEROXALURIA: FROM OXALIS ACETOSELLA TO THE MULBERRY CALCULUS, CKD, RETINOPATHY AND SYSTEMIC OXALOSIS. (18th May 2018) Authors: Viggiano, Davide; Simonelli, Francesca; Capasso, Giovambattista; De Santo, Natale Journal: Nephrology dialysis transplantation Issue: Volume 33(2018)Supplement 1 Page Start: i608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. Issue 6 (11th April 2019) Authors: Cappuccio, Gerarda; Brunetti‐Pierri, Raffaella; Torella, Annalaura; Pinelli, Michele; Castello, Raffaele; Casari, Giorgio; Nigro, Vincenzo; Banfi, Sandro; Simonelli, Francesca; Brunetti‐Pierri, Nicola Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 6(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study. Issue 7 (July 2019) Authors: Di Iorio, Valentina; Orrico, Ada; Esposito, Gabriella; Melillo, Paolo; Rossi, Settimio; Sbordone, Sandro; Auricchio, Alberto; Testa, Francesco; Simonelli, Francesca Journal: Retina Issue: Volume 39:Issue 7(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Issue 2 (6th December 2012) Authors: Rossi, Settimio; Testa, Francesco; Li, Anren; Yaylacioğlu, Fulya; Gesualdo, Carlo; Hejtmancik, J Fielding; Simonelli, Francesca Journal: British journal of ophthalmology Issue: Volume 97:Issue 2(2013) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (12th June 2020) Authors: Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗