Buonfiglio PI - Search Results

1

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

Buonfiglio PI, Menazzi S, Francipane L, Lotersztein V, Ferreiro V, Elgoyhen AB, Dalamón V. Buonfiglio PI, et al. PLoS One. 2023 Feb 24;18(2):e0275703. doi: 10.1371/journal.pone.0275703. eCollection 2023. PLoS One. 2023. PMID: 36827238 Free PMC article.

2

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

Dalamón VK, Buonfiglio P, Larralde M, Craig P, Lotersztein V, Choate K, Pallares N, Diamante V, Elgoyhen AB. Dalamón VK, et al. BMC Med Genet. 2016 May 4;17(1):37. doi: 10.1186/s12881-016-0298-y. BMC Med Genet. 2016. PMID: 27141831 Free PMC article.

3

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

Buonfiglio P, Bruque CD, Luce L, Giliberto F, Lotersztein V, Menazzi S, Paoli B, Elgoyhen AB, Dalamón V. Buonfiglio P, et al. Genes (Basel). 2020 Oct 21;11(10):1233. doi: 10.3390/genes11101233. Genes (Basel). 2020. PMID: 33096615 Free PMC article.

4

Theragnosis for Duchenne Muscular Dystrophy.

Luce L, Carcione M, Mazzanti C, Buonfiglio PI, Dalamón V, Mesa L, Dubrovsky A, Corderí J, Giliberto F. Luce L, et al. Among authors: buonfiglio pi. Front Pharmacol. 2021 Jun 3;12:648390. doi: 10.3389/fphar.2021.648390. eCollection 2021. Front Pharmacol. 2021. PMID: 34149409 Free PMC article.

5

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

Buonfiglio PI, Bruque CD, Lotersztein V, Luce L, Giliberto F, Menazzi S, Francipane L, Paoli B, Goldschmidt E, Elgoyhen AB, Dalamón V. Buonfiglio PI, et al. Sci Rep. 2022 Jan 7;12(1):301. doi: 10.1038/s41598-021-04081-2. Sci Rep. 2022. PMID: 34997062 Free PMC article.

6

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

Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I. Domínguez-Ruiz M, et al. Among authors: buonfiglio pi. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.

7

[Epidemiological study and serotyping by multiple PCR of Listeria monocytogenes isolated from food matrices in Argentina].

Figueroa Y, Gentiluomo J, Grisaro A, Buffoni M, Zipenco N, Sucari A, Buonfiglio P, Costa M. Figueroa Y, et al. Rev Argent Microbiol. 2023 Oct-Dec;55(4):387-394. doi: 10.1016/j.ram.2023.05.004. Epub 2023 Jul 19. Rev Argent Microbiol. 2023. PMID: 37479608 Free article. Spanish.

8

Comment on De Rosa et al. Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America. Genes 2024, 15, 178.

Elgoyhen AB, Buonfiglio PI, Dalamón V. Elgoyhen AB, et al. Among authors: buonfiglio pi. Genes (Basel). 2024 Oct 30;15(11):1401. doi: 10.3390/genes15111401. Genes (Basel). 2024. PMID: 39596601 Free PMC article.

9

Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.

Buonfiglio PI, Izquierdo A, Pace MV, Grinberg S, Lotersztein V, Brun P, Bruque CD, Elgoyhen AB, Dalamón V. Buonfiglio PI, et al. J Pers Med. 2024 Aug 27;14(9):906. doi: 10.3390/jpm14090906. J Pers Med. 2024. PMID: 39338160 Free PMC article.

10

Co-release of GABA and ACh from medial olivocochlear neurons fine tunes cochlear efferent inhibition.

Castagnola T, Castagna VC, Kitcher SR, Torres Cadenas L, Di Guilmi MN, Gomez Casati ME, Buonfiglio PI, Dalamón V, Katz E, Elgoyhen AB, Weisz CJC, Goutman JD, Wedemeyer C. Castagnola T, et al. Among authors: buonfiglio pi. bioRxiv [Preprint]. 2024 Aug 16:2024.08.12.607644. doi: 10.1101/2024.08.12.607644. bioRxiv. 2024. PMID: 39185230 Free PMC article. Preprint.

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