1. Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A). Issue 12 (30th July 2021) Authors: Iannaccone, Alessandro; Brewer, Carmen C.; Cheng, Peiyao; Duncan, Jacque L.; Maguire, Maureen G.; Audo, Isabelle; Ayala, Allison R.; Bernstein, Paul S.; Bidelman, Gavin M.; Cheetham, Janet K.; Doty, Richard L.; Durham, Todd A.; Hufnagel, Robert B.; Myers, Mark H.; Stingl, Katarina; Zein, Wadih M. Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. (2nd April 2016) Authors: Wilkin, Justin; Kerr, Natalie C.; Byrd, Kathryn W.; Ward, Jewell C.; Iannaccone, Alessandro Journal: Ophthalmic genetics Issue: Volume 37:Number 2(2016) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Choosing Outcome Measures and Assessing Efficacy of Therapeutic Interventions in Inherited Retinal Diseases: The Importance of Natural History Studies. Issue 4 (28th September 2021) Authors: Iannaccone, Alessandro; Alekseev, Oleg Journal: International ophthalmology clinics Issue: Volume 61:Issue 4(2021) Page Start: 47 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Issue 10 (11th July 2013) Authors: Wang, Xia; Wang, Hui; Sun, Vincent; Tuan, Han-Fang; Keser, Vafa; Wang, Keqing; Ren, Huanan; Lopez, Irma; Zaneveld, Jacques E; Siddiqui, Sorath; Bowles, Stephanie; Khan, Ayesha; Salvo, Jason; Jacobson, Samuel G; Iannaccone, Alessandro; Wang, Feng; Birch, David; Heckenlively, John R; Fishman, Geral... Journal: Journal of medical genetics Issue: Volume 50:Issue 10(2013) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Handbook of clinical electrophysiology of vision. (c2019) Other Names: Yu, Minzhong; Creel, Donnell J (Donnell Joseph); Iannaccone, Alessandro Record Type: Book Extent: 1 online resource (218 p.) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Modulation of Wolframin Expression in Human Placenta during Pregnancy: Comparison among Physiological and Pathological States. (23rd January 2014) Authors: Lucariello, Angela; Perna, Angelica; Sellitto, Carmine; Baldi, Alfonso; Iannaccone, Alessandro; Cobellis, Luigi; De Luca, Antonio; De Falco, Maria Other Names: Smith Heather F. Academic Editor. Journal: BioMed research international Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Plasma endothelin-1 concentrations in patients with retinal vein occlusions. Issue 5 (1st May 1998) Authors: Iannaccone, Alessandro; Letizia, Claudio; Pazzaglia, Sebastiano; Vingolo, Enzo M; Clemente, Giovanni; Pannarale, Mario R Journal: British journal of ophthalmology Issue: Volume 82:Issue 5(1998) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration. (February 2017) Authors: Iannaccone, Alessandro; Hollingsworth, T.J.; Koirala, Diwa; New, David D.; Lenchik, Nataliya I.; Beranova-Giorgianni, Sarka; Gerling, Ivan C.; Radic, Marko Z.; Giorgianni, Francesco Journal: Experimental eye research Issue: Volume 155(2017) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study. Issue 5 (21st March 2022) Authors: Hufnagel, Robert B.; Liang, Wendi; Duncan, Jacque L.; Brewer, Carmen C.; Audo, Isabelle; Ayala, Allison R.; Branham, Kari; Cheetham, Janet K.; Daiger, Stephen P.; Durham, Todd A.; Guan, Bin; Heon, Elise; Hoyng, Carel B.; Iannaccone, Alessandro; Kay, Christine N.; Michaelides, Michel; Pennesi, Mar... Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗