Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Florencia Giliberto"'
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:
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:
Pedro Tomás Funes, Daniela Moggia, Diana Lidia Parma, Marcela Ferrer, Florencia Giliberto, Irene Szijan
Publikováno v:
ARS Medica, Vol 46, Iss 1 (2021)
Background and aim: Gliomas are the most common primary brain tumors, and they are classified according to their histopathological and genetic features. Tumorigenesis depends on alterations in different genes. The aim of this study was to identify mu
Externí odkaz:
https://doaj.org/article/42acf2c33eb14e7cbf817c588c0d4679
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189736 (2017)
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma
Externí odkaz:
https://doaj.org/article/c1f65deb301f4c55be4ae6c33a0e5cb6
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
Autor:
Chiara Mazzanti, Liliana Francipane, Carlos Daniel de Brasi, Leonela Natalia Luce, Florencia Giliberto, Sebastián Menazzi, Pablo Lapunzina, Irene Szijan, Micaela Carcione, Liliana Carmen Rossetti, Julián Nevado, M. M. Abelleyro, Pamela Radic
Publikováno v:
Neuromuscular disorders : NMD. 31(3)
This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f72edb5b82728a83bb2bea130fd931f
https://pubmed.ncbi.nlm.nih.gov/33451931
https://pubmed.ncbi.nlm.nih.gov/33451931
Autor:
Leonela Luce, Miguel Abelleyro, Micaela Carcione, Chiara Mazzanti, Liliana Rossetti, Pamela Radic, Irene Szijan, Sebasti n Menazzi, Liliana Francipane, Juli n Nevado, Pablo Lapunzina, Carlos De Brasi, Florencia Giliberto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a992f352db222400b70a2105183cc17
https://doi.org/10.22541/au.159242061.16003967
https://doi.org/10.22541/au.159242061.16003967
Autor:
Florencia Giliberto, Alberto Dubrovsky, Lilia Mesa, Jose Corderi, Micaela Carcione, Leonela Natalia Luce, Chiara Mazzanti
Publikováno v:
Neuromuscular Disorders. 31:S83
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0c927fd3ac19af8145e79f4f20c088b
https://doi.org/10.1016/j.nmd.2021.07.139
https://doi.org/10.1016/j.nmd.2021.07.139
Autor:
Marcela Maria Ferrer, Florencia Giliberto, Irene Szijan, María Micaela Carcione, Chiara Mazzanti, Leonela Natalia Luce
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee85e19ce00931deca2b1cea1ec920fb
https://www.sciencedirect.com/science/article/pii/S0960896618301202
https://www.sciencedirect.com/science/article/pii/S0960896618301202
Autor:
Irene Szijan, Diana Lidia Parma, Marcela Maria Ferrer, Leonela Natalia Luce, Florencia Giliberto
Publikováno v:
PLoS ONE
PLoS ONE, Vol 12, Iss 12, p e0189736 (2017)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
PLoS ONE, Vol 12, Iss 12, p e0189736 (2017)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9a07aa8c677f479a0f2655164cedd4
https://pubmed.ncbi.nlm.nih.gov/29261756
https://pubmed.ncbi.nlm.nih.gov/29261756