Centro Nacional de Genética Médica (CeNaGeM)
Nombre de la Organización/Unidad
Centro Nacional de Genética Médica (CeNaGeM)
Director
Organización/Unidad superior
Ciudad
Ciudad Autónoma de Buenos Aires
País
Argentina
Publicaciones del Área/Organización
(Dept/Workgroup Publication)
Date issued
Results 1-20 of 27 (Search time: 0.005 seconds).
| Issue Date | Title | Author(s) | |
|---|---|---|---|
| 1 | 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 |
| 2 | 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 |
| 3 | Oct-2004 | Acitretin embryopathy: a case report | Barbero, Pablo ; Lotersztein, Vanesa ; Bronberg, Rubén ; Perez, Miriam ; Alba, Liliana |
| 4 | 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 |
| 5 | 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 |
| 6 | 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 |
| 7 | 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 |
| 8 | 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 |
| 9 | 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 |
| 10 | May-2020 | Congenital limb reduction defects in 1.6 million births in Argentina | Alberto, Guillermo ; Barbero, Pablo ; Liascovich, Rosa ; Bidondo, María Paz ; Groisman, Boris |
| 11 | Jun-2015 | Descriptive study on neural tube defects in Argentina | Sargiotto, Carla ; Bidondo, María Paz ; Liascovich, Rosa ; Barbero, Pablo ; Groisman, Boris |
| 12 | 5-Oct-2016 | Diprosopus: Systematic review and report of two cases | Bidondo, María Paz ; Groisman, Boris ; Tardivo, Agostina ; Tomasoni, Fabián ; Tejeiro, Verónica ; Camacho, Inés ; Vilas, Mariana ; Liascovich, Rosa ; Barbero, Pablo |
| 13 | 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 |
| 14 | 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 |
| 15 | 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 |
| 16 | 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 |
| 17 | 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 |
| 18 | Jul-2021 | New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly | de Castro, Viviane Freitas ; Mattos, Daniel ; de Carvalho, Flavia Martinez ; Cavalcanti, Denise Pontes ; Duenas-Roque, Milagros M ; Llerena, Juan ; Cosentino, Viviana Raquel ; Honjo, Rachel Sayuri ; Leite, Julio Cesar Loguercio ; Sanseverino, Maria Teresa ; de Souza, Márcia Pereira Alves ; Bernardi, Pricila ; Bolognese, Ana Maria ; Santana da Silva, Luiz Carlos ; Barbero, Pablo ; Correia, Patricia Santana ; Bueno, Larissa Souza Mario ; Savastano, Clarice Pagani ; Orioli, Iêda Maria |
| 19 | Jun-2021 | Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing | Mendez, Rodrigo ; Iqbal, Sumaiya ; Vishnopolska, Sebastián A ; Martínez, Cinthia ; Dibner, Glenda ; Aliano, Rocio ; Zaiat, Jonathan ; Biagioli, Germán ; Fernandez, Cecilia ; Turjanski, Adrián G ; Campbell, Arthur J ; Mercado, Graciela ; Marti, Marcelo A |
| 20 | 22-Jul-2001 | Parental consanguinity in specific types of congenital anomalies | Rittler, Mónica ; Liascovich, Rosa ; López Camelo, Jorge ; Castilla, Eduardo E. |