Lotersztein V - 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. Among authors: lotersztein 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.

2

Performance of speech perception after cochlear implantation in DFNB1 patients.

Dalamón V, Lotersztein V, Lipovsek M, Bèherán A, Mondino ME, Diamante F, Pallares N, Diamante V, Elgoyhen AB. Dalamón V, et al. Among authors: lotersztein v. Acta Otolaryngol. 2009 Apr;129(4):395-8. doi: 10.1080/00016480802566295. Acta Otolaryngol. 2009. PMID: 19051073

3

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. Among authors: lotersztein v. Audiol Neurootol. 2010;15(3):194-202. doi: 10.1159/000254487. Epub 2009 Nov 4. Audiol Neurootol. 2010. PMID: 19887791

4

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. Among authors: lotersztein v. 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

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. Among authors: lotersztein v. 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

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

7

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

8

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. Among authors: lotersztein v. J Pers Med. 2024 Aug 27;14(9):906. doi: 10.3390/jpm14090906. J Pers Med. 2024. PMID: 39338160 Free PMC article.

9

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.

Espeche LD, Solari AP, Mori MÁ, Arenas RM, Palomares M, Pérez M, Martínez C, Lotersztein V, Segovia M, Armando R, Dain LB, Nevado J, Lapunzina P, Rozental S. Espeche LD, et al. Among authors: lotersztein v. Mol Biol Rep. 2020 Sep;47(9):6863-6878. doi: 10.1007/s11033-020-05743-6. Epub 2020 Sep 13. Mol Biol Rep. 2020. PMID: 32920771

10

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG, Luna JD, Labat N, Yadarola MB, Bainttein S, Esposito E, Ibañez A, Barbaro EI, Álvarez Mendiara A, Picotti CP, Chirino Misisian A, Andreussi L, Gras J, Capalbo L, Visotto M, Dipierri JE, Alcoba E, Fernández Gabrielli L, Ávila S, Aucar ME, Martin DM, Ormaechea GJ, Inga ME, Francone AA, Charles M, Zompa T, Pérez PJ, Lotersztein V, Nuova PJ, Canonero IB, Mahroo OA, Michaelides M, Arno G, Daich Varela M. Schlottmann PG, et al. Among authors: lotersztein v. NPJ Genom Med. 2023 May 22;8(1):8. doi: 10.1038/s41525-023-00352-1. NPJ Genom Med. 2023. PMID: 37217489 Free PMC article.

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