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)
Results 41-60 of 94 (Search time: 0.003 seconds).
| Issue Date | Title | Author(s) | |
|---|---|---|---|
| 41 | 26-Jul-2018 | Genetics and genomic medicine in Argentina | Vishnopolska, Sebastián A ; Turjanski, Adrián G ; Herrera Piñero, Mariana ; Groisman, Boris ; Liascovich, Rosa ; Chiesa, Ana ; Marti, Marcelo A |
| 42 | Jan-2017 | Geographic clusters of congenital anomalies in Argentina | Groisman, Boris ; Gili, Juan ; Giménez, Lucas ; Poletta, Fernando ; Bidondo, María Paz ; Barbero, Pablo ; Liascovich, Rosa ; López Camelo, Jorge |
| 43 | 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 |
| 44 | 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 |
| 45 | 21-Oct-2020 | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort | Buonfiglio, Paula ; Bruque, Carlos David ; Luce, Leonela ; Giliberto, Florencia ; Lotersztein, Vanesa ; Menazzi, Sebastián ; Paoli, Bibiana ; Elgoyhen, Ana Belén ; Dalamón, Viviana |
| 46 | 2012 | Hallazgo clínico de hipotiroidismo en una muestra de 50 pacientes con síndrome de williams beuren | Mercado, G. ; Gutierrez, M. ; Valencia, I. L. |
| 47 | 10-Jul-2025 | High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing | Claps, Aldana ; Kolomenski, Emilio ; Fernández, Franco ; Macchiaroli, Natalia ; Ingravidi, Marina ; Delea, Marisol ; Fernandez, Cecilia ; Castro, Tania ; Laiseca, Julieta ; Kamenetzky, Laura ; Taboas, Melisa ; Dain, Liliana |
| 48 | 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 |
| 49 | Sep-2020 | Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system | Espeche, Lucía ; Solari, Andrea ; 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 |
| 50 | 2018 | Inequidad en el diagnóstico prenatal y la interrupción del embarazo por anomalía fetal en Argentina | Barbero, Pablo ; Liascovich, Rosa ; Tellechea, Ana Laura ; Piola, Agustina ; Bidondo, María Paz ; Groisman, Boris |
| 51 | 1-Aug-2019 | [Lumbocostovertebral syndrome: first case report in Argentina] | Albarracín, María de Los A ; Groisman, Boris ; Liascovich, Rosa ; Barbero, Pablo ; Bidondo, María Paz |
| 52 | Mar-1996 | Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al | Perandones, Claudia ; Cerretini, Roxana Inés ; Vargas Vera, R M ; Aranda, Eliseo Isaac ; Alba, Liliana ; Pivetta, Omar H. |
| 53 | 1-Dec-2017 | Microdeleción 16p11.2: primeros casos reportados en Argentina | Tardivo, Agostina ; Masotto, Bárbara ; Espeche, Lucía ; Solari, Andrea ; Nevado, Julián ; Rozental, Sandra |
| 54 | 1-Feb-2018 | National Health Care Network for children with oral clefts: organization, functioning, and preliminary outcomes | Cassinelli, Agustina ; Pauselli, Nadia ; Piola, Agustina ; Martinelli, Claudia ; Alves de Azeved, José L ; Bidondo, María Paz ; Groisman, Boris ; Barbero, Pablo ; Liascovich, Rosa ; Sala, Ana |
| 55 | 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 R ; 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 |
| 56 | 1-Oct-2023 | Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson | Solari, Andrea ; Alberto, Guillermo ; Benitez Medina, Ana ; García Ayré, Brenda ; Parisini, Daniel ; Claps, Aldana ; Taboas, Melisa |
| 57 | 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 |
| 58 | 22-Jul-2001 | Parental consanguinity in specific types of congenital anomalies | Rittler, Mónica ; Liascovich, Rosa ; López Camelo, Jorge ; Castilla, Eduardo E. |
| 59 | 2020 | Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina | Corral, Pablo ; Bañares, Virginia ; Sáenz, Benjamín ; Zago, Valeria ; Sarobe, Agustina ; Lopez, Graciela I ; Berg, Gabriela ; Schreier, Laura |
| 60 | 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 |