Browsing by Department Centro Nacional de Genética Médica (CeNaGeM)
Showing results 1 to 20 of 83
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| Issue Date | Title | Author(s) |
|---|---|---|
| 29-May-2022 | A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy | Kancherla, Vijaya ; Tandaki, Lucita ; Sundar, Manasvi ; Lux, Anke ; Bakker, Marian K ; Bergman, Jorieke Eh ; Bermejo-Sánchez, Eva ; Canfield, Mark A ; Feldkamp, Marcia L ; Groisman, Boris ; Hurtado-Villa, Paula ; Källén, Karin ; Landau, Danielle ; Lelong, Nathalie ; López Camelo, Jorge ; Mastroiacovo, Pierpaolo ; Morgan, Margery ; Mutchinick, Osvaldo M ; Nance, Amy E ; Nembhard, Wendy N ; Pierini, Anna ; Sipek, Antonin ; Stallings, Erin B ; Szabova, Elena ; Wertelecki, Wladimir ; Zarante, Ignacio ; Rissmann, Anke |
| Apr-2019 | A proposal for the systematic assessment of data quality indicators in birth defects surveillance | Groisman, Boris ; Mastroiacovo, Pierpaolo ; Barbero, Pablo ; Bidondo, María Paz ; Liascovich, Rosa ; Botto, Lorenzo D |
| Oct-2004 | Acitretin embryopathy: a case report | Barbero, Pablo ; Lotersztein, Vanesa ; Bronberg, Rubén ; Perez, Miriam ; Alba, Liliana |
| 15-Jul-2022 | Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000-2014 multi-country registry-based study | Gili, Juan Antonio ; López-Camelo, Jorge Santiago ; Nembhard, Wendy N ; Bakker, Marian K ; de Walle, Hermien E K ; Stallings, Erin B ; Kancherla, Vijaya ; Contiero, Paolo ; Dastgiri, Saeed ; Feldkamp, Marcia L ; Nance, Amy E ; Gatt, Miriam ; Martínez, Laura ; Canessa, María Aurora ; Groisman, Boris ; Hurtado-Villa, Paula ; Källén, Karin ; Landau, Danielle ; Lelong, Nathalie ; Morgan, Margery ; Arteaga-Vázquez, Jazmín ; Pierini, Anna ; Rissmann, Anke ; Sipek, Antonin ; Szabova, Elena ; Wertelecki, Wladimir ; Zarante, Ignacio ; Canfield, Mark A ; Mastroiacovo, Pierpaolo |
| 11-Feb-2021 | Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas | Delea, Marisol ; Massara, Soledad ; Bruque, Carlos David ; Espeche, Lucía Daniela ; Taboas, Melisa I. ; Barbero, Pablo ; Bidondo, María Paz ; Liascovich, Rosa ; Groisman, Boris ; Cosentino, Viviana R. ; Martinoli, Celeste ; Furforo, Lilian ; Ritler, Mónica ; Kolomenski, Emilio ; Oliveri, Jaen ; Brun, Paloma ; Rozental, Sandra ; Dain, Liliana |
| 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 |
| 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 |
| 13-Feb-2019 | Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina | Groisman, Boris ; Barbero, Pablo ; Mastroiacovo, Pierpaolo ; Botto, Lorenzo D. ; Bidondo, María Paz ; Liascovich, Rosa |
| Oct-2015 | Aqueiropodia : primer reporte de caso en Argentina | Ormazábal, Mariel ; Vaccari, Nelly ; Szulepa, Roberto ; Bidondo, María Paz ; Barbero, Pablo ; Groisman, Boris |
| 4-Sep-2013 | Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome | Leme, D E S ; Souza, D H ; Mercado, Graciela ; Pastene, E. A. ; Dias, A ; Moretti-Ferreira, D |
| Jul-2019 | Birth defects surveillance: experiences in Argentina and Colombia | Groisman, Boris ; Liascovich, Rosa ; Bidondo, María Paz ; Barbero, Pablo ; Duarte, Santiago ; Tellechea, Ana Laura ; Holguín, Jorge ; Rodríguez, Catherine ; Hurtado-Villa, Paula ; Caicedo, Natalia ; Botta, Gabriela ; Zarante, Ignacio |
| Jul-2021 | Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level | Bronberg, Rubén ; Groisman, Boris ; Bidondo, María Paz ; Barbero, Pablo ; Liascovich, Rosa |
| Jul-2020 | Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level | Bronberg, Rubén ; Groisman, Boris ; Bidondo, María Paz ; Barbero, Pablo ; Liascovich, Rosa |
| Dec-2019 | Bone dysplasias in 1.6 million births in Argentina | Duarte, Santiago Pablo ; Rocha, María Eugenia ; Bidondo, María Paz ; Liascovich, Rosa ; Barbero, Pablo ; Groisman, Boris |
| 2021 | Características del tratamiento recibido por los niños con fisura labio alvéolo palatina en el subsector público en Argentina | Cipolla, Lucía ; Piola, Agustina ; Barbero, Pablo ; Groisman, Boris ; Bidondo, María Paz ; Chuit, Roberto ; Liascovich, Rosa |
| Feb-2006 | Censo de servicios de genética médica en Argentina | Liascovich, Rosa ; Rozental, Sandra ; Barbero, Pablo ; Alba, Liliana ; Ortiz, Zulma |
| 15-Sep-2008 | Choanal atresia associated with maternal hyperthyroidism treated with methimazole : a case-control study | Barbero, Pablo ; Valdez, Rita ; Rodríguez, Hugo ; Tiscornia, Carlos ; Mansilla, Enrique ; Allons, Adriana ; Coll, Silvia ; Liascovich, Rosa |
| 2016 | Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques | Tenorio, Jair ; Romanelli, Valeria ; Martin-Trujillo, Alex ; Fernández, García-Moya ; Segovia, Mabel ; Perandones, Claudia ; Pérez Jurado, Luis A ; Esteller, Manel ; Fraga, Mario ; Arias, Pedro ; Gordo, Gema ; Dapía, Irene ; Mena, Rocío ; Palomares, María ; Pérez de Nanclares, Guiomar ; Nevado, Julián ; García-Miñaur, Sixto ; Santos-Simarro, Fernando ; Martinez-Glez, Víctor ; Vallespín, Elena ; Monk, David ; Lapunzina, Pablo |
| 2017 | Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries | Santos, Raul D ; Bourbon, Mafalda ; Alonso, Rodrigo ; Cuevas, Ada ; Vasques-Cardenas, Norma Alexandra ; Pereira, Alexandre C ; Merchan, Alonso ; Alves, Ana Catarina ; Medeiros, Ana Margarida ; Jannes, Cinthia E ; Krieger, Jose E ; Schreier, Laura ; Perez de Isla, Leopoldo ; Magaña-Torres, Maria Teresa ; Stoll, Mario ; Mata, Nelva ; Dell'Oca, Nicolás ; Corral, Pablo ; Asenjo, Sylvia ; Bañares, Virginia ; Reyes, Ximena ; Mata, Pedro |
| May-2020 | Congenital limb reduction defects in 1.6 million births in Argentina | Alberto, Guillermo ; Barbero, Pablo ; Liascovich, Rosa ; Bidondo, María Paz ; Groisman, Boris |