En esta colección encontrará publicaciones editadas por los integrantes del Centro Nacional de Genética Médica.
Browse
Collection's Items (Sorted by Submit Date in Descending order): 21 to 40 of 73
Issue Date | Title | Author(s) |
---|---|---|
2018 | Unusual genetic variants associated with hypercholesterolemia in Argentina | Corral, Pablo ; Geller, Andrew S ; Polisecki, Eliana Y ; Lopez, Graciela I ; Bañares, Virginia ; Cacciagiu, Leonardo ; Berg, Gabriela ; Hegele, Robert A ; Schaefer, Ernst J ; Schreier, Laura |
Mar-2012 | APOE -491 T allele may reduce the risk of atherosclerotic lesions among middle-aged women | Bañares, Virginia ; Bardach, Ariel ; Peterson, G. ; Tavella, M. ; Schreier, Laura |
22-Jun-2001 | APC senses cell-cell contacts and moves to the nucleus upon their disruption | Brocardo, Mariana G. ; Bianchini, Michele ; Radrizzani, Martin ; Reyes, Gloria B. ; Dugour, Andrea V. ; Taminelli, Guillermo L. ; Gonzalez Solveyra, César ; Santa-Coloma, Tomás A. |
2018 | Análisis de factores de riesgo asociados con anomalías congénitas en recién nacidos de la zona de la cuenca del Río Matanza-Riachuelo | Bidondo, María Paz ; Groisman, Boris ; Gili, Juan ; Liascovich, Rosa ; Martin, María Cecilia ; Tocci, A. M. ; Flores, Romina ; Pus Barraza, Andrea ; Barbero, Pablo |
Dec-2016 | Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations | Bruque, Carlos D ; Delea, Marisol ; Fernández, Cecilia ; Orza, Juan V ; Taboas, Melisa ; Buzzalino, Noemí ; Espeche, Lucía ; Solari, Andrea ; Luccerini, Verónica ; Alba, Liliana ; Nadra, Alejandro D. ; Dain, Liliana |
Oct-2004 | Acitretin embryopathy: a case report | Barbero, Pablo ; Lotersztein, Vanesa ; Bronberg, Rubén ; Perez, Miriam ; Alba, Liliana |
Oct-2015 | Aqueiropodia : primer reporte de caso en Argentina | Ormazábal, Mariel ; Vaccari, Nelly ; Szulepa, Roberto ; Bidondo, María Paz ; Barbero, Pablo ; Groisman, Boris |
21-Oct-2020 | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort | Buonfiglio, Paula ; Bruque, Carlos D ; Luce, Leonela ; Giliberto, Florencia ; Lotersztein, Vanesa ; Menazzi, Sebastián ; Paoli, Bibiana ; Elgoyhen, Ana Belén ; Dalamón, Viviana |
Dec-2020 | Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes | Mulder, P A ; van Balkom, I D C ; Landlust, A M ; Priolo, M ; Menke, L A ; Acero, I H ; Alkuraya, F S ; Arias, P ; Bernardini, L ; Bijlsma, E K ; Cole, T ; Coubes, C ; Dapia, I ; Davies, S ; Di Donato, N ; Elcioglu, N H ; Fahrner, J A ; Foster, A ; González, N G ; Huber, I ; Iascone, M ; Kaiser, A-S ; Kamath, A ; Kooblall, K ; Lapunzina, P ; Liebelt, J ; Lynch, S A ; Maas, S M ; Mammì, C ; Mathijssen, I B ; McKee, S ; Mirzaa, G M ; Montgomery, T ; Neubauer, D ; Neumann, T E ; Pintomalli, L ; Pisanti, M A ; Plomp, A S ; Price, S ; Salter, C ; Santos-Simarro, F ; Sarda, P ; Schanze, D ; Segovia, Mabel ; Shaw-Smith, C ; Smithson, S ; Suri, M ; Tatton-Brown, K ; Tenorio, J ; Thakker, R V ; Valdez, R M ; Van Haeringen, A ; Van Hagen, J M ; Zenker, M ; Zollino, M ; Dunn, W W ; Piening, S ; Hennekam, R C |
Sep-2020 | Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system | 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 ; Nevado, Julián ; Lapunzina, Pablo ; Rozental, Sandra |
7-Oct-2020 | TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings | Bevilacqua, Florencia ; Alberto, Guillermo ; Duarte, Santiago Pablo ; Serra, Marina ; Basterra, Julieta ; Espeche, Lucía ; Cerretini, Roxana Inés ; Solari, Andrea Paula |
Dec-2013 | RENAC: Registro Nacional de Anomalías Congénitas de Argentina | Groisman, Boris ; Bidondo, María Paz ; Barbero, Pablo ; Gili, Juan ; Liascovich, Rosa |
16-Aug-2017 | Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency | Espeche, Lucía Daniela ; Chiauzzi, Violeta ; Ferder, Ianina ; Arrar, Mehrnoosh ; Solari, Andrea Paula ; Bruque, Carlos David ; Delea, Marisol ; Belli, Susana ; Fernández, Cecilia Soledad ; Buzzalino, Noemí Delia ; Charreau, Eduardo Hernán ; Dain, Liliana |
1-Aug-2016 | The National Network of Congenital Anomalies: extended goals for surveillance | Groisman, Boris ; Bidondo, María Paz ; Barbero, Pablo ; Liascovich, Rosa |
Apr-2016 | A der(11)t(4;11)(q21;p15) in a T-ALL/LBL patient | Colli, Sandra ; Furforo, Lilian ; Rojo Pisarello, Eduardo ; Maidana, Marcela ; Martín, Carlos ; Bordone, Javier ; Slavutsky, Irma |
Mar-2013 | A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome | Delgado, L M ; Gutierrez, M. ; Augello, B ; Fusco, C ; Micale, L ; Merla, G ; Pastene, E. A. |
1-Dec-2017 | Microdeleción 16p11.2: primeros casos reportados en Argentina | Tardivo, Agostina ; Masotto, Bárbara ; Espeche, Lucía ; Solari, Andrea P ; Nevado, Julián ; Rozental, Sandra |
Oct-2020 | Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica | Alves, Ana Catarina ; Alonso, Rodrigo ; Diaz-Diaz, José Luís ; Medeiros, Ana Margarida ; Jannes, Cinthia E ; Merchan, Alonso ; Vasques-Cardenas, Norma A ; Cuevas, Ada ; Chacra, Ana Paula ; Krieger, Jose E ; Arroyo, Raquel ; Arrieta, Francisco ; Schreier, Laura ; Corral, Pablo ; Bañares, Virginia ; Araujo, Maria B ; Bustos, Paula ; Asenjo, Sylvia ; Stoll, Mario ; Dell'Oca, Nicolás ; Reyes, Maria ; Ressia, Andrés ; Campo, Rafael ; Magaña-Torres, Maria T ; Metha, Roopa ; Aguilar-Salinas, Carlos A ; Ceballos-Macias, José J ; Ruiz Morales, Álvaro J ; Mata, Pedro ; Bourbon, Mafalda ; Santos, Raul D |
2019 | Frataxin Structure and Function | Castro, Ignacio Hugo ; Pignataro, María Florencia ; Sewell, Karl Ellioth ; Espeche, Lucía Daniela ; Herrera, María Georgina ; Noguera, Martín Ezequiel ; Dain, Liliana ; Nadra, Alejandro Daniel ; Aran, Martín ; Smal, Clara ; Gallo, Mariana ; Santos, Javier |
Dec-2019 | Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina | Cerretini, Roxana ; Mercado, Graciela ; Morganstein, Josh ; Schiaffi, Jorge ; Reynoso, Mónica ; Montoya, Diana ; Valdez, Rita ; Narod, Steven A ; Akbari, Mohammad R |
Collection's Items (Sorted by Submit Date in Descending order): 21 to 40 of 73