Výsledky vyhledávání - "Andrea Maria Coppe"

Akademický článek

Superficial and Deep Capillary Plexuses: Potential Biomarkers of Focal Retinal Defects in Eyes Affected by Macular Idiopatic Epiretinal Membranes? A Pilot Study

Autor: Andrea Maria Coppe, Giuliana Lapucci, Luca Buzzonetti, Guido Ripandelli, Giancarlo Iarossi

Publikováno v: Diagnostics, Vol 12, Iss 12, p 3205 (2022)

Inner macular layers are the most involved in the retinal distortion caused by idiopathic epiretinal membrane (iERM). They represent the anatomical structures in which the superficial (SCP) and deep (DCP) capillary plexus are embedded. We quantified

Externí odkaz: https://doaj.org/article/8675ee9ac631486593e6e9032a6fe4d1

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Akademický článek

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

Autor: Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe’, Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli, Luca Buzzonetti

Publikováno v: Diagnostics, Vol 12, Iss 9, p 2183 (2022)

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported to date. Here,

Externí odkaz: https://doaj.org/article/100e43fa61934ef6a5888b2489c699ae

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Akademický článek

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

Autor: Paolo Enrico Maltese, Leonardo Colombo, Salvatore Martella, Luca Rossetti, Said El Shamieh, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppè, Luca Buzzonetti, Benedetto Falsini, Pietro Chiurazzi, Giorgio Placidi, Benedetta Tanzi, Matteo Bertelli, Giancarlo Iarossi

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Purpose: Describing the clinical and genetic features of an ethnically heterogeneous group of (inherited retinal diseases) IRD patients from different underrepresented countries, referring to specialized Italian Hospitals, and expanding the epidemiol

Externí odkaz: https://doaj.org/article/64e60849a1b641d4bed9640d23cfdf90

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