Browsing by Subject Mutación

Showing results 1 to 12 of 12
Issue DateTitleAuthor(s)
Aug-2012A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2Perandones, Claudia ; Micheli, Federico E ; Pellene, Luis A ; Bayly, Marta A ; Berkovic, Samuel F ; Dibbens, Leanne M 
2009Correlations of mutations in katG, oxyR-ahpC and inhA genes and in vitro susceptibility in Mycobacterium tuberculosis clinical strains segregated by spoligotype families from tuberculosis prevalent countries in South AmericaDalla Costa, Elis R. ; Ribeiro, Marta O. ; Silva, Márcia S. N. ; Arnold, Liane S. ; Rostirolla, Diana C. ; Cafrune, Patricia I. ; Espinoza, Roger C. ; Palaci, Moises ; Telles, María A. ; Ritacco, Viviana ; Suffys, Philip Noel ; Lopes, Maria L. ; Campelo, Creuza L. ; Miranda, Silvana S. ; Kremer, Kristin ; Almeida da Silva, Pedro E. ; de Souza Fonseca, Leila ; Ho, John L. ; Kritski, Afrânio L. ; Rossetti, María L. 
Mar-2018Emergence of resistance to ciprofloxacin in Neisseria meningitidis in BrazilGorla, María Cecilia ; Cassiolato, Ana Paula ; Pinhata, Juliana Maira Watanabe ; de Moraes, Camile ; Corso, Alejandra ; Gagetti, Paula ; Lemos, Ana Paula 
Sep-2018First Clinical Isolation of an Azole-Resistant Aspergillus fumigatus Isolate Harboring a TR46 Y121F T289A Mutation in South AmericaIsla, Guillermina ; Leonardelli, Florencia ; Tiraboschi, Iris N ; Refojo, Nicolás ; Hevia, Alejandra I. ; Vivot, Walter ; Szusz, Wanda ; Córdoba, Susana ; Garcia-Effron, Guillermo 
Feb-2012Genetic diversity of Histoplasma capsulatum isolated from infected bats randomly captured in Mexico, Brazil, and Argentina, using the polymorphism of (GA)(n) microsatellite and its flanking regionsTaylor, Maria Lucia ; Hernández-García, Lorena ; Estrada-Bárcenas, Daniel Alfonso ; Salas-Lizana, Rodolfo ; Zancopé-Oliveira, Rosely M ; García de la Cruz, Saúl ; Galvão-Dias, Maria A ; Curiel-Quesada, Everardo ; Canteros, Cristina Elena ; Bojórquez-Torres, Georgina ; Bogard-Fuentes, Carlos A ; Zamora-Tehozol, Erick 
24-Aug-2019Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from ArgentinaCerretini, Roxana ; Mercado, Graciela ; Morganstein, Josh ; Schiaffi, Jorge ; Reynoso, Mónica ; Montoya, Diana ; Valdez, Rita ; Narod, Steven A ; Akbari, Mohammad R 
Sep-2011Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin AmericaMata, Ignacio F ; Wilhoite, Greggory J ; Yearout, Dora ; Bacon, Justin A ; Cornejo-Olivas, Mario ; Mazzetti, Pilar ; Marca, Victoria ; Ortega, Olimpio ; Acosta, Oscar ; Cosentino, Carlos ; Torres, Luis ; Medina, Angel C ; Perez-Pastene, Carolina ; Díaz-Grez, Fernando ; Vilariño-Güell, Carles ; Venegas, Pablo ; Miranda, Marcelo ; Trujillo-Godoy, Osvaldo ; Layson, Luis ; Avello, Rodrigo ; Dieguez, Elena ; Raggio, Victor ; Micheli, Federico E ; Perandones, Claudia ; Alvarez, Victoria ; Segura-Aguilar, Juan ; Farrer, Matthew J ; Zabetian, Cyrus P ; Ross, Owen A 
2000Mutaciones en genes Ha-ras y p53 detectadas mediante PCR-SSCP en lesiones premalignas y malignas de cuello uterino asociadas con virus papiloma humano (HPV)Alonio, Lidia V. ; Dalbert, Delia ; Picconi, María Alejandra ; Cervantes Vazquez, Guadalupe ; García Carrancá, Alejandro ; Distéfano, Angélica ; Mural, Juan ; Bartt, Ofelia ; Bazan, Graciela ; Teyssie, Angelica R. 
Apr-2010New Mutation in 23S rRNA Gene Associated with High Level of Azithromycin Resistance in Neisseria gonorrhoeaeGalarza, Patricia G. ; Abad, Raquel ; Fernández, Canigia, Liliana ; Buscemi, Luis ; Pagano, Irene ; Oviedo, Claudia ; Vázquez, Julio A. 
2017Preliminary spectrum of genetic variants in familial hypercholesterolemia in ArgentinaBañares, Virginia ; Corral, Pablo ; Medeiros, Ana Margarida ; Araujo, Maria B ; Lozada, Alfredo ; Bustamante, Juan ; Cerretini, Roxana ; Lopez, Graciela I ; Bourbon, Mafalda ; Schreier, L. 
16-Dec-2015Prevalence of bla TEM-220 gene in Penicillinase-producing Neisseria gonorrhoeae strains carrying Toronto/Rio plasmid in Argentina, 2002 - 2011Gianecini, Ricardo Ariel ; Oviedo, Claudia ; Guantay, Cristina ; Piccoli, Laura ; Stafforini, Graciela ; Galarza, Patricia G. 
2011Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patientsMinutolo, Carolina ; Nadra, Alejandro D. ; Fernández, Cecilia ; Taboas, Melisa ; Buzzalino, Noemí ; Casali, Bárbara ; Belli, Susana ; Charreau, Eduardo H. ; Alba, Liliana ; Dain, Liliana