Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Paula I. Buonfiglio"'
Autor:
María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A. Moreno-Pelayo, Ana B. Elgoyhen, Francisco J. del Castillo, Viviana Dalamón, Ignacio del Castillo
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 2943 (2023)
Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in GJB2, encoding connexin-26, are a major cause of NSHI (the DFNB1 type), but few other genes have significant epidemiological con
Externí odkaz:
https://doaj.org/article/992bbf9bae834364a262f8b6f33463a6
Autor:
Paula I. Buonfiglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, Ernesto Goldschmidt, Ana Belén Elgoyhen, Viviana Dalamón
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafne
Externí odkaz:
https://doaj.org/article/566dfa2b97ec4284a3729f4ceba24c83
Autor:
Paula I. Buonfiglio, Sebastián Menazzi, Liliana Francipane, Vanesa Lotersztein, Verónica Ferreiro, Ana Belén Elgoyhen, Viviana Dalamón
Publikováno v:
PLoS ONE, Vol 18, Iss 2 (2023)
The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an Argentinean cohort, analyzing 3 LHON-associated mitochondrial genes. In 32% of the cases, mo
Externí odkaz:
https://doaj.org/article/56791bbfa63f40668e7ac181d59178c8
Autor:
Leonela Luce, Micaela Carcione, Chiara Mazzanti, Paula I. Buonfiglio, Viviana Dalamón, Lilia Mesa, Alberto Dubrovsky, José Corderí, Florencia Giliberto
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most severe form. Despite the fac
Externí odkaz:
https://doaj.org/article/9670f28779b84c91968bfc80279f7db4
Autor:
Paula I. Buonfiglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, Ernesto Goldschmidt, Ana Belén Elgoyhen, Viviana Dalamón
Publikováno v:
Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafness. After
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dabee8399dca159205f7b624aedb8
https://pubmed.ncbi.nlm.nih.gov/34997062
https://pubmed.ncbi.nlm.nih.gov/34997062