Search Results - "Buonfiglio, Paula"

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON) by Buonfiglio, Paula I, Menazzi, Sebastián, Francipane, Liliana, Lotersztein, Vanesa, Ferreiro, Verónica, Elgoyhen, Ana Belén, Dalamón, Viviana

“…The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an…”
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Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches by 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

“…Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the…”
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Theragnosis for Duchenne Muscular Dystrophy by Luce, Leonela, Carcione, Micaela, Mazzanti, Chiara, Buonfiglio, Paula I., Dalamón, Viviana, Mesa, Lilia, Dubrovsky, Alberto, Corderí, José, Giliberto, Florencia

“…Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular…”
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Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects by 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

“…Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in , encoding connexin-26, are a major…”
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Comment on De Rosa et al. Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America. Genes 2024, 15, 178 by Elgoyhen, Ana Belén, Buonfiglio, Paula Inés, Dalamón, Viviana

“…The manuscript “Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America” by De Rosa et al [...]…”
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Epidemiological study and serotyping by multiple PCR of Listeria monocytogenes isolated from food matrices in Argentina by Figueroa, Yamila, Gentiluomo, Jimena, Grisaro, Agustina, Buffoni, Mariana, Zipenco, Nadia, Sucari, Adriana, Buonfiglio, Paula, Costa, Magdalena

“…Listeria monocytogenes is an opportunistic foodborne pathogen. It can resist stress conditions by adapting through the production of biofilms, which represents…”
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Key role of the TM2-TM3 loop in calcium potentiation of the α9α10 nicotinic acetylcholine receptor by 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.

“…The α9α10 nicotinic cholinergic receptor (nAChR) is a ligand-gated pentameric cation-permeable ion channel that mediates synaptic transmission between…”
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Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome by Buonfiglio, Paula Inés, Izquierdo, Agustín, Pace, Mariela Vanina, Grinberg, Sofia, Lotersztein, Vanesa, Brun, Paloma, Bruque, Carlos David, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2-5% of congenital cases. It is characterized by hearing…”
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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort by Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis…”
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GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort by Buonfiglio, Paula, Bruque, Carlos D, Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Genetic variants in 2 and 6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables…”
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Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report by Dalamón, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belén

“…Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary…”
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Estudio epidemiológico y serotipificación por PCR múltiple de Listeria monocytogenes aislada de matrices alimentarias en Argentina by Figueroa, Yamila, Gentiluomo, Jimena, Grisaro, Agustina, Buffoni, Mariana, Zipenco, Nadia, Sucari, Adriana, Buonfiglio, Paula, Costa, Magdalena

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Connexin 26 syndrome: a case report by Dalamon, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belnn

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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON) by Paula I. Buonfiglio, Sebastián Menazzi, Liliana Francipane, Vanesa Lotersztein, Verónica Ferreiro, Ana Belén Elgoyhen, Viviana Dalamón

“…The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an…”
Get full text