Dalamón V - Search Results

1

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: dalamon v. Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943. Biomedicines. 2023. PMID: 38001944 Free PMC article.

2

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. Among authors: dalamon v. Genes (Basel). 2020 Oct 21;11(10):1233. doi: 10.3390/genes11101233. Genes (Basel). 2020. PMID: 33096615 Free PMC article.

3

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. Among authors: dalamon v. Sci Rep. 2022 Jan 7;12(1):301. doi: 10.1038/s41598-021-04081-2. Sci Rep. 2022. PMID: 34997062 Free PMC article.

4

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

Dalamón V, Béhèran A, Diamante F, Pallares N, Diamante V, Elgoyhen AB. Dalamón V, et al. Hear Res. 2005 Sep;207(1-2):43-9. doi: 10.1016/j.heares.2005.04.012. Hear Res. 2005. PMID: 15964725

5

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.

6

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. Among authors: dalamon v. PLoS One. 2023 Feb 24;18(2):e0275703. doi: 10.1371/journal.pone.0275703. eCollection 2023. PLoS One. 2023. PMID: 36827238 Free PMC article.

7

Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.

Dalamón V, Florencia Wernert M, Lotersztein V, Craig PO, Diamante RR, Barteik ME, Curet C, Paoli B, Mansilla E, Elgoyhen AB. Dalamón V, et al. Mol Biol Rep. 2013 Dec;40(12):6945-55. doi: 10.1007/s11033-013-2814-x. Epub 2013 Oct 25. Mol Biol Rep. 2013. PMID: 24158611

8

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

Dalamón V, Lotersztein V, Béhèran A, Lipovsek M, Diamante F, Pallares N, Francipane L, Frechtel G, Paoli B, Mansilla E, Diamante V, Elgoyhen AB. Dalamón V, et al. Audiol Neurootol. 2010;15(3):194-202. doi: 10.1159/000254487. Epub 2009 Nov 4. Audiol Neurootol. 2010. PMID: 19887791

9

Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.

Dalamon V, Fiori MC, Figueroa VA, Oliva CA, Del Rio R, Gonzalez W, Canan J, Elgoyhen AB, Altenberg GA, Retamal MA. Dalamon V, et al. Pflugers Arch. 2016 May;468(5):909-18. doi: 10.1007/s00424-016-1788-7. Epub 2016 Jan 14. Pflugers Arch. 2016. PMID: 26769242

10

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: dalamon v. Front Pharmacol. 2021 Jun 3;12:648390. doi: 10.3389/fphar.2021.648390. eCollection 2021. Front Pharmacol. 2021. PMID: 34149409 Free PMC article.

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