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

Autor: Viviana Karina Dalamon, Leonela Natalia Luce, Sebastián Menazzi, Ana Belén Elgoyhen, Vanesa Lotersztein, Bibiana Paoli, Paula Inés Buonfiglio, Florencia Giliberto, Carlos David Bruque

Publikováno v: Genes
Genes, Vol 11, Iss 1233, p 1233 (2020)
Volume 11
Issue 10
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
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Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we prese

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248eab97a8b04c07b001b9146ee400ae
http://europepmc.org/articles/PMC7589744

Metagenomic analysis of gut microbiota in non-treated plaque psoriasis patients stratified by disease severity: development of a new Psoriasis-Microbiome Index

Autor: Leonela Natalia Luce, Hernán Dopazo, Florencia Giliberto, Ignacio Dei-Cas, Alberto Penas-Steinhardt

Publikováno v: Scientific Reports
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

Psoriasis is an immune-mediated skin disorder. Imbalance of gut microbial populations has been implicated in many diseases. We aimed to investigate whether there were differences in gut microbiota in psoriasis patients vs non-psoriasis controls and b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::494aea56070018c4b091fbc432d0f774
https://pubmed.ncbi.nlm.nih.gov/32728075

Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort

Autor: Marcela Maria Ferrer, Florencia Giliberto, Irene Szijan, María Micaela Carcione, Chiara Mazzanti, Leonela Natalia Luce

Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee85e19ce00931deca2b1cea1ec920fb
https://www.sciencedirect.com/science/article/pii/S0960896618301202

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Autor: Irene Szijan, Diana Lidia Parma, Marcela Maria Ferrer, Leonela Natalia Luce, Florencia Giliberto

Publikováno v: PLoS ONE
PLoS ONE, Vol 12, Iss 12, p e0189736 (2017)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9a07aa8c677f479a0f2655164cedd4
https://pubmed.ncbi.nlm.nih.gov/29261756

Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

Autor: Irena Szijan, Marcela Maria Ferrer, Florencia Giliberto, Daniela Ottaviani, Javier Cotignola, Leonela Natalia Luce

Publikováno v: Muscle & Nerve. 49:249-256

Fil: Luce, Leonela N.. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Microbiologia, Inmunologia y Biotecnologia. Catedra de Genetica y Biologia Molecular; Argentina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::434a00024245bf71af462ab95e845cea
https://doi.org/10.1002/mus.23906