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Breast Cancer Research and Treatment|December 20, 2024
Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian populationLuciana Berlanga, Vanesa Lotersztein, Eliseo I Aranda, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|October 8, 2004
Acitretin embryopathy: a case reportPablo Barbero, Vanesa Lotersztein, Ruben Bronberg, et al.
Plos One|February 24, 2023
Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON)Paula I Buonfiglio, Sebastián Menazzi, Liliana Francipane, et al.
BMC Medical Genetics|May 5, 2016
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case reportViviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, et al.
Acta Oto-Laryngologica|December 4, 2008
Performance of speech perception after cochlear implantation in DFNB1 patientsViviana Dalamón, Vanesa Lotersztein, Marcela Lipovsek, et al.
Genes|October 24, 2020
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired CohortPaula Buonfiglio, Carlos D Bruque, Leonela Luce, et al.
Journal of Personalized Medicine|September 28, 2024
Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg SyndromePaula Inés Buonfiglio, Agustín Izquierdo, Mariela Vanina Pace, et al.
NAR Genomics and Bioinformatics|December 12, 2024
In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from ArgentinaPaula I Buonfiglio, Carlos D Bruque, Lucía Salatino, et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology|September 18, 2020
Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case reportGuadalupe Buda, Rita María Valdez, German Biagioli, et al.
Scientific Reports|January 8, 2022
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approachesPaula I Buonfiglio, Carlos D Bruque, Vanesa Lotersztein, et al.
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