Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Irene De Rienzo"'
Autor:
Vittoria Murro, Dario Pasquale Mucciolo, Alessandra Fiorencis, Francesca Simonelli, Valentina Di Iorio, Andrea Sodi, Cristiana Marchese, Benedetto Falsini, Giacomo Bacci, Giancarlo Iarossi, Dario Giorgio, Giorgio Placidi, Assia Andrao, Manar Aoun, Giovanni Bosco Vitiello, Amelia Citro, Simona De Simone, Irene De Rienzo, Natalia Filimonova, Stefania Fortini, Ilaria Passerini, Simona Turco
Publikováno v:
BMJ Open, Vol 12, Iss 9 (2022)
Objectives Although inherited retinal disorders (IRDs) related to the gene encoding the retinal pigment epithelium 65kD protein (RPE65) significantly impact the vision-related quality of life (VRQoL), their emotional and social aspects remain poorly
Externí odkaz:
https://doaj.org/article/47f7cea2847d4365bff343af87927092
Autor:
Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 7207 (2021)
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EO[S]RD), which differ in severity and age of onset. IRDs
Externí odkaz:
https://doaj.org/article/91917a6e82614a528a0f88fa5f2fc0d7
Autor:
Irene De Rienzo, Sandro Banfi, Marco Seri, Manar Aoun, Vittoria Murro, Pietro Chiurazzi, Ilaria Passerini, Giovanna Sartor, Natalia Filimonova, Marianthi Karali
Publikováno v:
Kompass Ophthalmologie. 7:115-123
Die hereditaren Netzhautdystrophien (IRD; inherited retinal diseases) sind eine heterogene Gruppe von Krankheiten – unter anderem Retinitis pigmentosa (RP), Lebersche kongenitale Amaurose (LCA) und Netzhautdystrophie mit fruhem Krankheitsbeginn (EO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3fbcdac559bfc62090afbc7fe122a65
https://doi.org/10.1159/000519136
https://doi.org/10.1159/000519136
Autor:
Anna Laura Putignano, Francesca Gensini, Sharon Trujillo Saavedra, Gabriele Lorenzo Capone, Irene Paganini, Berardino Porfirio, Roberta Sestini, Irene De Rienzo, Laura Papi
Publikováno v:
The Journal of Molecular Diagnostics. 20:87-94
The efficiency of a novel targeted next-generation sequencing (NGS) test, the Devyser BRCA kit, for a comprehensive analysis of all 48 coding exons of the high-risk breast/ovarian cancer susceptibility genes BRCA1 and BRCA2 has been assessed. The new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d2218327ed48ac0b4347f8f29d6b78c
https://doi.org/10.1016/j.jmoldx.2017.09.005
https://doi.org/10.1016/j.jmoldx.2017.09.005