Works by Lotersztein, Vanesa

Results: 13

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

Published in:

PLoS ONE, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.pone.0275703

By:

Buonfiglio, Paula I.;
Menazzi, Sebastián;
Francipane, Liliana;
Lotersztein, Vanesa;
Ferreiro, Verónica;
Elgoyhen, Ana Belén;
Dalamón, Viviana

Publication type:

Article

Identification of copy‐number variants in patients with overgrowth disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596

By:

Parra, Alejandro;
Tenorio‐Castano, Jair;
Nevado, Julián;
Cazalla, Mario;
Miranda‐Alcaraz, Lucía;
Gallego‐Zazo, Natalia;
Silván, Cristina;
Arias, Pedro;
Pozo‐Román, Jesús;
Ballesta‐Martínez, María Juliana;
Guillén‐Navarro, Encarna;
Arroyo, Ignacio;
Lotersztein, Vanesa;
Cosentino, Viviana;
González‐Meneses, Antonio;
Galán, Enrique;
Rosell, Jordi;
Ramos, Feliciano;
Plasencia, Antonio;
Rosa, Alberto L.

Publication type:

Article

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report.

Published in:

2020

By:

Buda, Guadalupe;
Valdez, Rita María;
Biagioli, German;
Olivieri, Federico A.;
Affranchino, Nicolás;
Bouso, Carolina;
Lotersztein, Vanesa;
Bogunovic, Dusan;
Bustamante, Jacinta;
Martí, Marcelo A.

Publication type:

Letter

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

Published in:

Journal of Personalized Medicine, 2024, v. 14, n. 9, p. 906, doi. 10.3390/jpm14090906

By:

Buonfiglio, Paula Inés;
Izquierdo, Agustín;
Pace, Mariela Vanina;
Grinberg, Sofia;
Lotersztein, Vanesa;
Brun, Paloma;
Bruque, Carlos David;
Elgoyhen, Ana Belén;
Dalamón, Viviana

Publication type:

Article

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

Published in:

Genes, 2020, v. 11, n. 10, p. 1233, doi. 10.3390/genes11101233

By:

Buonfiglio, Paula;
Bruque, Carlos D.;
Luce, Leonela;
Giliberto, Florencia;
Lotersztein, Vanesa;
Menazzi, Sebastián;
Paoli, Bibiana;
Elgoyhen, Ana Belén;
Dalamón, Viviana

Publication type:

Article

GJB2 and GJB6 Genes: Molecular Study and Identification of Novel GJB2 Mutations in the Hearing-Impaired Argentinean Population.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 3, p. 194, doi. 10.1159/000254487

By:

Dalamón, Viviana;
Lotersztein, Vanesa;
Béhèran, Agustina;
Lipovsek, Marcela;
Diamante, Fernando;
Pallares, Norma;
Francipane, Liliana;
Frechtel, Gustavo;
Paoli, Bibiana;
Mansilla, Enrique;
Diamante, Vicente;
Elgoyhen, Ana Belén

Publication type:

Article

Performance of speech perception after cochlear implantation in DFNB1 patients.

Published in:

Acta Oto-Laryngologica, 2009, v. 129, n. 4, p. 395, doi. 10.1080/00016480802566295

By:

Dalamón, Viviana;
Lotersztein, Vanesa;
Lipovsek, Marcela;
Bèherán, Agustina;
Mondino, Maria Elena;
Diamante, Fernando;
Pallares, Norma;
Diamante, Vicente;
Elgoyhen, Ana Belen

Publication type:

Article

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

Published in:

Molecular Biology Reports, 2020, v. 47, n. 9, p. 6863, doi. 10.1007/s11033-020-05743-6

By:

Espeche, Lucía Daniela;
Solari, Andrea Paula;
Mori, María Ángeles;
Arenas, Rubén Martín;
Palomares, María;
Pérez, Myriam;
Martínez, Cinthia;
Lotersztein, Vanesa;
Segovia, Mabel;
Armando, Romina;
Dain, Liliana Beatriz;
Nevado, Julián;
Lapunzina, Pablo;
Rozental, Sandra

Publication type:

Article

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

Published in:

Molecular Biology Reports, 2013, v. 40, n. 12, p. 6945, doi. 10.1007/s11033-013-2814-x

By:

Dalamón, Viviana;
Florencia Wernert, M.;
Lotersztein, Vanesa;
Craig, Patricio O.;
Diamante, Raúl Reynoso;
Barteik, María E.;
Curet, Carlos;
Paoli, Bibiana;
Mansilla, Enrique;
Elgoyhen, Ana Belén

Publication type:

Article

In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina.

Published in:

NAR Genomics & Bioinformatics, 2024, v. 6, n. 4, p. 1, doi. 10.1093/nargab/lqae162

By:

Buonfiglio, Paula I;
Bruque, Carlos D;
Salatino, Lucía;
Lotersztein, Vanesa;
Pace, Mariela;
Grinberg, Sofia;
Elgoyhen, Ana B;
Plazas, Paola V;
Dalamón, Viviana

Publication type:

Article

Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population.

Published in:

Breast Cancer Research & Treatment, 2025, v. 210, n. 2, p. 385, doi. 10.1007/s10549-024-07576-4

By:

Berlanga, Luciana;
Lotersztein, Vanesa;
Aranda, Eliseo I.;
Cerretini, Roxana

Publication type:

Article

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

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04081-2

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

Publication type:

Article

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

Published in:

2016

By:

Dalamón, Viviana Karina;
Buonfiglio, Paula;
Larralde, Margarita;
Craig, Patricio;
Lotersztein, Vanesa;
Choate, Keith;
Pallares, Norma;
Diamante, Vicente;
Elgoyhen, Ana Belén

Publication type:

Case Study