Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON)
Buonfiglio, Paula I, Menazzi, Sebastián, Francipane, Liliana, Lotersztein, Vanesa, Ferreiro, Verónica, Elgoyhen, Ana Belén, Dalamón, Viviana
Published in PloS one (24.02.2023)
Published in PloS one (24.02.2023)
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Journal Article
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches
Buonfiglio, Paula I, Bruque, Carlos D, Lotersztein, Vanesa, Luce, Leonela, Giliberto, Florencia, Menazzi, Sebastián, Francipane, Liliana, Paoli, Bibiana, Goldschmidt, Ernesto, Elgoyhen, Ana Belén, Dalamón, Viviana
Published in Scientific reports (07.01.2022)
Published in Scientific reports (07.01.2022)
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Journal Article
Theragnosis for Duchenne Muscular Dystrophy
Luce, Leonela, Carcione, Micaela, Mazzanti, Chiara, Buonfiglio, Paula I., Dalamón, Viviana, Mesa, Lilia, Dubrovsky, Alberto, Corderí, José, Giliberto, Florencia
Published in Frontiers in pharmacology (03.06.2021)
Published in Frontiers in pharmacology (03.06.2021)
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Journal Article
Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Domínguez-Ruiz, María, Ruiz-Palmero, Laura, Buonfiglio, Paula I, García-Vaquero, Irene, Gómez-Rosas, Elena, Goñi, Marina, Villamar, Manuela, Morín, Matías, Moreno-Pelayo, Miguel A, Elgoyhen, Ana B, Del Castillo, Francisco J, Dalamón, Viviana, Del Castillo, Ignacio
Published in Biomedicines (31.10.2023)
Published in Biomedicines (31.10.2023)
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Journal Article
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort
Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana
Published in Genes (01.10.2020)
Published in Genes (01.10.2020)
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Journal Article
Epidemiological study and serotyping by multiple PCR of Listeria monocytogenes isolated from food matrices in Argentina
Figueroa, Yamila, Gentiluomo, Jimena, Grisaro, Agustina, Buffoni, Mariana, Zipenco, Nadia, Sucari, Adriana, Buonfiglio, Paula, Costa, Magdalena
Published in Revista argentina de microbiología (01.10.2023)
Published in Revista argentina de microbiología (01.10.2023)
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Journal Article
Key role of the TM2-TM3 loop in calcium potentiation of the α9α10 nicotinic acetylcholine receptor
Gallino, Sofia L., Agüero, Lucía, Boffi, Juan C., Schottlender, Gustavo, Buonfiglio, Paula, Dalamon, Viviana, Marcovich, Irina, Carpaneto, Agustín, Craig, Patricio O., Plazas, Paola V., Elgoyhen, Ana B.
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
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Journal Article
Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome
Buonfiglio, Paula Inés, Izquierdo, Agustín, Pace, Mariela Vanina, Grinberg, Sofia, Lotersztein, Vanesa, Brun, Paloma, Bruque, Carlos David, Elgoyhen, Ana Belén, Dalamón, Viviana
Published in Journal of personalized medicine (27.08.2024)
Published in Journal of personalized medicine (27.08.2024)
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Journal Article
GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort
Buonfiglio, Paula, Bruque, Carlos D, Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana
Published in Genes (21.10.2020)
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Published in Genes (21.10.2020)
Journal Article
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
Dalamón, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belén
Published in BMC medical genetics (04.05.2016)
Published in BMC medical genetics (04.05.2016)
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Journal Article
Estudio epidemiológico y serotipificación por PCR múltiple de Listeria monocytogenes aislada de matrices alimentarias en Argentina
Figueroa, Yamila, Gentiluomo, Jimena, Grisaro, Agustina, Buffoni, Mariana, Zipenco, Nadia, Sucari, Adriana, Buonfiglio, Paula, Costa, Magdalena
Published in Revista argentina de microbiología (01.10.2023)
Published in Revista argentina de microbiología (01.10.2023)
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Journal Article
Connexin 26 syndrome: a case report
Dalamon, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belnn
Published in BMC medical genetics (04.05.2016)
Published in BMC medical genetics (04.05.2016)
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Journal Article
Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
Paula I. Buonfiglio, Sebastián Menazzi, Liliana Francipane, Vanesa Lotersztein, Verónica Ferreiro, Ana Belén Elgoyhen, Viviana Dalamón
Published in PloS one (01.01.2023)
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Published in PloS one (01.01.2023)
Journal Article
Co-release of GABA and ACh from medial olivocochlear neurons fine tunes cochlear efferent inhibition
Castagnola, Tais, Castagna, Valeria C, Kitcher, Siân R, Torres Cadenas, Lester, Di Guilmi, Mariano N, Gomez Casati, Maria Eugenia, Buonfiglio, Paula I, Dalamón, Viviana, Katz, Eleonora, Elgoyhen, Ana Belén, Weisz, Catherine J C, Goutman, Juan D, Wedemeyer, Carolina
Published in bioRxiv (16.08.2024)
Published in bioRxiv (16.08.2024)
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Journal Article