Výsledky vyhledávání - "Viviana Dalamón"

Akademický článek

Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

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

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Akademický článek

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

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

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Akademický článek

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).

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

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Akademický článek

Theragnosis for Duchenne Muscular Dystrophy

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

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Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Publikováno v: Scientific Reports
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

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Procedures for Sensorineural Hearing Loss

Autor: Marcos Goycoolea, Viviana Dalamón, Ana Elgoyhen, Juan Maass

Publikováno v: Atlas of Otologic Surgery and Magic Otology
Atlas of otologic surgery and magic otology

Fil: Goycoolea, Marcos. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biolog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d014789f9582c81e2a9b112e70c3f120
https://doi.org/10.5005/jp/books/11530_40

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GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population

Autor: Viviana, Dalamón, Vanesa, Lotersztein, Agustina, Béhèran, Marcela, Lipovsek, Fernando, Diamante, Norma, Pallares, Liliana, Francipane, Gustavo, Frechtel, Bibiana, Paoli, Enrique, Mansilla, Vicente, Diamante, Ana Belén, Elgoyhen

Publikováno v: Audiologyneuro-otology. 15(3)

Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14c194e6e1a3d2ae7e9ef4524c099d00
https://pubmed.ncbi.nlm.nih.gov/19887791

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