- Convegno ASBBI 23 settembre 2023
Testo del convegno
Presentazione
____________________
Curriculum vitae
____________________
Pubblicazioni:
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.
Salvatore Tolone;Ludovico Docimo;Valentina Di Iorio;Francesca Simonelli;Alessandra Perna;Vincenzo Nigro; Giovambattista Capasso Miriam Zacchia - 2022
https://pubmed.ncbi.nlm.nih.gov/36281451/
Macular abnormalities in Italian patients with retinitis pigmentosa.
Francesco Testa, Settimio Rossi, Raffaella Colucci, Beatrice Gallo, Valentina Di Iorio, Michele della Corte, Claudio Azzolini, Paolo Melillo, Francesca Simonelli
https://pubmed.ncbi.nlm.nih.gov/24532797/
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes:
Zacchia Miriam; Simonelli Francesca; Di Iorio Valentina;Anastasio Pietro;Capasso Giovambattista - 2018
https://pubmed.ncbi.nlm.nih.gov/29482283/
Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome
Zacchia M; Di Iorio Valentina; Capolongo G;Rinaldi L; Capasso G.
https://europepmc.org/article/med/28963828
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: Identification of eleven novel pathogenic sequence variants
ESPOSITO, GABRIELLA;TESTA, Francesco;ZACCHIA, Miriam;Di Iorio, Valentina;Capolongo, Giovanna;Rinaldi, Luca;ROSSI, Settimio;CAPASSO, Giovambattista;SIMONELLI, Francesca;
https://pubmed.ncbi.nlm.nih.gov/28143435/
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F, Filippelli M, Brunetti-Pierri R, Di Fruscio G, Di Iorio V, Pizzo M, Torella A, Barillari MR, Nigro V, Brunetti-Pierri N, Simonelli F, Banfi S.
https://iris.unicampania.it/handle/11591/371060
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F.
https://pubmed.ncbi.nlm.nih.gov/29053603/