En esta colección encontrará publicaciones editadas por los integrantes del Centro Nacional de Genética Médica.
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Collection's Items (Sorted by Submit Date in Descending order): 41 to 60 of 81
| Issue Date | Title | Author(s) |
|---|---|---|
| 16-Aug-2017 | Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency | Espeche, Lucía ; Chiauzzi, Violeta ; Ferder, Ianina ; Arrar, Mehrnoosh ; Solari, Andrea ; 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 ; 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 ; Herrera, María Georgina ; Noguera, Martín Ezequiel ; Dain, Liliana ; Nadra, Alejandro D. ; 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 |
| 24-May-2019 | Sistemas de vigilância de anomalias congênitas na América Latina e Caribe: presente e futuro | Durán, Pablo ; Liascovich, Rosa ; Barbero, Pablo ; Bidondo, María Paz ; Groisman, Boris ; Serruya, Suzanne ; de Francisco, Luis Andrés ; Becerra-Posada, Francisco ; Gordillo-Tobar, Amparo |
| 2019 | Genetics and genomic medicine in Argentina | Cotignola, Javier ; Rozental, Sandra ; Buzzalino, Noemí ; Dain, Liliana |
| 29-Jul-2019 | Prevalencia del síndrome de Down al nacimiento en Argentina | Martini, Javier ; Bidondo, María Paz ; Duarte, Santiago ; Liascovich, Rosa ; Barbero, Pablo ; Groisman, Boris |
| 26-Mar-2019 | A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome | Mendez, Rodrigo ; Delea, Marisol ; Dain, Liliana ; Rittler, Mónica |
| 1-Jun-2019 | Fragilidad del X y otras entidades asociadas al gen FMR1: estudio de 28 familias afectadas | Ormazábal, Mariel ; Solari, Andrea ; Espeche, Lucía ; Castro, Tania ; Buzzalino, Noemí |
| Sep-2019 | Prognostic significance of α- and β2-adrenoceptor gene expression in breast cancer patients | Rivero, Ezequiel Mariano ; Martinez, Leandro Marcelo ; Bruque, Carlos David ; Gargiulo, Lucia ; Bruzzone, Ariana ; Lüthy, Isabel Alicia |
| Oct-2019 | Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010 | Yu, Xiao ; Nassar, Natasha ; Mastroiacovo, Pierpaolo ; Canfield, Mark ; Groisman, Boris ; Bermejo-Sánchez, Eva ; Ritvanen, Annukka ; Kiuru-Kuhlefelt, Sonja ; Benavides, Adriana ; Sipek, Antonin ; Pierini, Anna ; Bianchi, Fabrizio ; Källén, Karin ; Gatt, Miriam ; Morgan, Margery ; Tucker, David ; Canessa, M Aaurora ; Gajardo, Rosa ; Mutchinick, Osvaldo M ; Szabova, Elena ; Csáky-Szunyogh, Melinda ; Tagliabue, Giovanna ; Cragan, Janet D ; Nembhard, Wendy N ; Rissmann, Anke ; Goetz, Dorit ; Bower, Carol ; Baynam, Gareth ; Lowry, R Brian ; Leon, Juan A ; Luo, Wei ; Rouleau, Jocelyn ; Zarante, Ignacio ; Fernandez, Nicolas ; Amar, Emmanuelle ; Dastgiri, Saeed ; Contiero, Paolo ; Martínez-de-Villarreal, Laura E ; Borman, Barry ; Bergman, J E H ; de Walle, Hermien E K ; Hobbs, Charlotte A ; Nance, Amy E ; Agopian, A J |
| 24-Aug-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 |
| Nov-2003 | Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2 | Zeiger, Joanna S ; Hetmanski, Jacqueline B ; Beaty, Terri H ; VanderKolk, Craig A ; Wyszynski, Diego F. ; Bailey-Wilson, Joan E ; de Luna, Rosa Ortiz ; Perandones, Claudia ; Tolarova, Marie M ; Mosby, Terezie ; Bennun, Ricardo D. ; Segovia, Mabel ; Calda, Pavel ; Pugh, Elizabeth W ; Doheny, Kim ; McIntosh, Iain |
| 5-Jun-2018 | Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2 | Boot, Erik ; Butcher, Nancy J ; Udow, Sean ; Marras, Connie ; Mok, Kin Y ; Kaneko, Satoshi ; Barrett, Matthew J ; Prontera, Paolo ; Berman, Brian D ; Masellis, Mario ; Dufournet, Boris ; Nguyen, Karine ; Charles, Perrine ; Mutez, Eugénie ; Danaila, Teodor ; Jacquette, Aurélia ; Colin, Olivier ; Drapier, Sophie ; Borg, Michel ; Fiksinski, Ania M ; Vergaelen, Elfi ; Swillen, Ann ; Vogels, Annick ; Plate, Annika ; Perandones, Claudia ; Gasser, Thomas ; Clerinx, Kristien ; Bourdain, Frédéric ; Mills, Kelly ; Williams, Nigel M ; Wood, Nicholas W ; Booij, Jan ; Lang, Anthony E ; Bassett, Anne S |
| 30-Jun-2015 | Letter to the Editor: Hypothesis: Somatic Mosaicism and Parkinson Disease | Perandones, Claudia ; Pellene, Luis A ; Giugni, J C ; Calvo, D S ; Raina, G B ; Cuevas, S M ; Mata, Ignacio F ; Zabetian, Cyrus P ; Caputo, Mariela ; Corach, Daniel ; Micheli, Federico E ; Radrizzani, Martin |
| 2012 | Caracterización molecular del módulo rccx en pacientes con deficiencia de 21-hidroxilasa de la población argentina | Fernández, C. S. ; Buzzalino, Noemí ; Oneto, A. ; Stivel, M. ; Belli, Susana ; Paqualini, T. ; Charreau, Eduardo H. ; Dain, Liliana |
Collection's Items (Sorted by Submit Date in Descending order): 41 to 60 of 81