Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Sebastián Menazzi"'
Publikováno v:
Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 81, Iss 1 (2024)
Introduction: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant i
Externí odkaz:
https://doaj.org/article/45023f87c46b4de0bcfdd1556c73fd3b
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, p e0275703 (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/04b1d51d71b943c4994e8b5d73d874df
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 Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón
Publikováno v:
Genes, Vol 11, Iss 10, p 1233 (2020)
Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we prese
Externí odkaz:
https://doaj.org/article/b6574787b0aa4bc895af523baf435905
Autor:
Federico José, Basbus, Federico Andrés, Cremona, Francisco, Lucero Saá, Pablo Alberto, Chiaradía, Liliana, Francipane, Sebastián, Menazzi
Publikováno v:
Cornea. 41:491-495
The purpose of this study was to report the clinical features and describe the results obtained by multimodal corneal imaging of a patient with novel chromosomal breakpoints of the 12q21.33 locus.This study was a case report and literature review.A 1
Autor:
Waldo Hasperué, Martín Carlos Abba, Agustín Daniel Marraco, Genaro Camele, Matias Butti, Sebastián Menazzi
Publikováno v:
SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
Universidad Nacional de La Plata
instacron:UNLP
El notable crecimiento del volumen de datos genómicos y la enorme variedad de bases de datos que los almacenan, hacen indispensable disponer de mecanismos eficientes y eficaces de integración. En la actualidad se encuentran disponibles varias herra
Autor:
Juan, Rosa, Matias, Tajerian, Yael, Zin, Mauricio, Brunner, Natalia, Lopez, Alejandro, Gaiera, Matias, Butti, Sebastián, Menazzi, Hernan, Chanfreau, Daniel, Luna, Luciana, Rubin, Sonia, Benitez
Publikováno v:
Studies in health technology and informatics. 290
Breast cancer represents 23% of all cancers diagnosed among women each year. BRCA1 and BRCA2 are tumor suppressor genes related to the most frequent form of hereditary breast and ovarian cancer, as well as other types of cancer. The aim of this work
Autor:
Juan Rosa, Matias Tajerian, Yael Zin, Mauricio Brunner, Natalia Lopez, Alejandro Gaiera, Matias Butti, Sebastián Menazzi, Hernan Chanfreau, Daniel Luna, Luciana Rubin, Sonia Benitez
Breast cancer represents 23% of all cancers diagnosed among women each year. BRCA1 and BRCA2 are tumor suppressor genes related to the most frequent form of hereditary breast and ovarian cancer, as well as other types of cancer. The aim of this work
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3d276e3a0507accd1a90650828bb211
https://doi.org/10.3233/shti220092
https://doi.org/10.3233/shti220092
Publikováno v:
Interamerican Journal of Health Sciences.
Background: Severity of COVID-19 has been linked to several factors. As any other polygenic-multifactorial phenotype, genotype is not determinant in this prediction but may add actionable information. There is no consensus yet as to which genetic mar
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