Zobrazeno 1 - 6
of 6
pro vyhledávání: '"María Eugenia, Foncuberta"'
Autor:
Matías, Juanes, Mariana, Loos, Gabriela, Reyes, Gabriel, Veneruzzo, Francisco Martín, García, Giovanna, Aschettino, Silvana, Calligaris, María Eugenia, Martín, María Eugenia, Foncuberta, Cristina N, Alonso, Roberto H, Caraballo
Publikováno v:
Medicina. 82(6)
The aim of this study was to extend our knowledge of the genetic background of Argentinean pediatric patients with developmental and epileptic encephalopathy (DEE) applying a next generation sequencing (NGS) panel.Thirty one patients with DEE were st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a2c7eca7fa9372d12232e806f153c9e1
https://pubmed.ncbi.nlm.nih.gov/36571524
https://pubmed.ncbi.nlm.nih.gov/36571524
Autor:
María del Valle Torrado, M. F. de Castro Perez, Luis Pablo Gravina, Lilien Chertkoff, Hilda Verónica Aráoz, Edgardo M Baialardo, María Eugenia Foncuberta
Publikováno v:
Pediatrics. 131:e544-e549
OBJECTIVE: The aim of this study was to assess the prevalence of congenital defects observed in patients with Prader-Willi syndrome (PWS) and to compare this prevalence with that described in the general population. In addition, these findings were c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ea825182d02d49f4fc931e3144e38f
https://doi.org/10.1542/peds.2012-1103
https://doi.org/10.1542/peds.2012-1103
Autor:
Lilien Chertkoff, Rosaura Caron Estrada, Luis Pablo Gravina, María Eugenia Foncuberta, Cristina Barreiro
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 71:639-643
Summary Objective Hearing loss is a complex multifactorial disorder caused by genetic and environmental factors. The 35delG mutation in the GJB2 gene is the most prevalent mutation in Caucasian patients with genetic sensorineural deafness. The A1555G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::200a6904acbb6483df25e67bc23dab78
https://doi.org/10.1016/j.ijporl.2006.12.015
https://doi.org/10.1016/j.ijporl.2006.12.015
Autor:
Marisa Felice, María Eugenia Foncuberta, Christian German Sanchez La Rosa, Lilien Chertkoff, Hilda Verónica Aráoz, Karina D'Aloi, Cristina N. Alonso
Publikováno v:
Leukemialymphoma. 56(5)
The aim of this study was to evaluate the influence of the most common genetic variants in methylenetetrahydrofolate reductase (MTHFR), thiopurine methyltransferase (TPMT) and glutathione-S-transferases (GSTs) on the outcome of acute lymphoblastic le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::529cce93e2b08c9b360aaf4bc1c76d28
https://pubmed.ncbi.nlm.nih.gov/25110820
https://pubmed.ncbi.nlm.nih.gov/25110820
Autor:
María Eugenia Foncuberta, Cristina Barreiro, Lilien Chertkoff, María Eugenia Prieto, Luis Pablo Gravina, Jeniffer A. Garrido
Publikováno v:
International journal of pediatric otorhinolaryngology. 74(3)
Objective Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide. Two deletions i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c2aa0d27409e98a8a7cd8bd31a3c64
https://pubmed.ncbi.nlm.nih.gov/20022641
https://pubmed.ncbi.nlm.nih.gov/20022641
Autor:
Luis Pablo, Gravina, María Eugenia, Foncuberta, Rosaura Caron, Estrada, Cristina, Barreiro, Lilien, Chertkoff
Publikováno v:
International journal of pediatric otorhinolaryngology. 71(4)
Hearing loss is a complex multifactorial disorder caused by genetic and environmental factors. The 35delG mutation in the GJB2 gene is the most prevalent mutation in Caucasian patients with genetic sensorineural deafness. The A1555G mutation in the m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::541d06c6f1e4a8dcf0765e45ebd5d60a
https://pubmed.ncbi.nlm.nih.gov/17276518
https://pubmed.ncbi.nlm.nih.gov/17276518