Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

por Fernandez, Nicolas, Escobar, Rebeca, Zarante, Ignacio
Publicado 2016

Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population

por López-Cáceres, Andrea, Velasco-Rueda, María, Garcia-Cifuentes, Elkin, Zarante, Ignacio, Matallana, Diana
Publicado 2021

Prevalence of aortic coarctation in Bogotá-Colombia from 2001 to 2018. The diagnostic needs to improve

por Ardila, Daniel F., Rincón-Montana, Angela G., García-Pérez, Laura D., Gracia, Gloria, Zarante, Ignacio
Publicado 2022

ECLAMC Study: prevalence patterns of hypospadias in South America: multi-national analysis over a 24-year period

por Fernández, Nicolás, Pérez, Jaime, Monterrey, Pedro, Poletta, Fernando A., Bägli, Darius J., Lorenzo, Armando J., Zarante, Ignacio
Publicado 2017

CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease

por Pineda, Tatiana, Zarante, Ignacio, Paredes, Angela Camila, Rozo, Juan Pablo, Reyes, Martha C., Moreno-Niño, Olga María
Publicado 2021

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

por Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Oliveira, Joao Bosco, Rico-Restrepo, Mariana, Rozenfeld, Paula, Zarante, Ignacio, Gonzaga-Jauregui, Claudia
Publicado 2022

Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia

por López-Cáceres, Andrea, Cruz-Sanabria, Francy, Mayorga, Pilar, Sanchez, Ana Isabel, Gonzalez-Nieves, Silvia, Ayala-Ramírez, Paola, Zarante, Ignacio, Matallana, Diana
Publicado 2022

A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean

por Zarante, Ignacio, Hurtado-Villa, Paula, Walani, Salimah R., Kancherla, Vijaya, López Camelo, Jorge, Giugliani, Roberto, Groisman, Boris, Howson, Christopher P., Durán, Pablo
Publicado 2019

MicroRNAs as Potential Liquid Biopsy Biomarker for Patients with Castration-Resistant Prostate Cancer

por Fernandez, Nicolas, Chavarriaga, Julian, Ayala, Paola, Pedraza, Adriana, Bolivar, John, Prada, Juan Guillermo, Cataño, Juan Guillermo, García-Perdomo, Herney Andres, Villanueva, Juliana, Varela, Daniela, Zarante, Ignacio
Publicado 2022

MYT1 role in the microtia‐craniofacial microsomia spectrum

por Luquetti, Daniela V., Heike, Carrie L., Zarante, Ignacio, Timms, Andrew E., Gustafson, Jonas, Pachajoa, Harry, Porras‐Hurtado, Gloria L., Ayala‐Ramirez, Paola, Duenas‐Roque, Milagros M., Jimenez, Natalia, Ibanez, Lina M., Hurtado‐Villa, Paula
Publicado 2020

Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2

por Ogonowski, Natalia, Santamaria-Garcia, Hernando, Baez, Sandra, Lopez, Andrea, Laserna, Andrés, Garcia-Cifuentes, Elkin, Ayala-Ramirez, Paola, Zarante, Ignacio, Suarez-Obando, Fernando, Reyes, Pablo, Kauffman, Marcelo, Cochran, Nick, Schulte, Michael, Sirkis, Daniel W, Spina, Salvatore, Yokoyama, Jennifer S, Miller, Bruce L, Kosik, Kenneth S, Matallana, Diana, Ibáñez, Agustín
Publicado 2023

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017

por Morris, Joan, Orioli, Ieda M, Benavides-Lara, Adriana, de la Paz Barboza-Arguello, María, Tapia, Maria Aurora Canessa, de França, Giovanny Vinícius Araújo, Groisman, Boris, Holguin, Jorge, Hurtado-Villa, Paula Margarita, Ibarra Ramirez, Marisol, Mellado, Cecilia, Pardo, Rosa, Pastora Bucardo, Dania Maria, Rodríguez, Catherin, Zarante, Ignacio, Limb, Elizabeth, Dolk, Helen
Publicado 2021

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry‐Based Study, 2001‐2012

por Bakker, Marian K., Kancherla, Vijaya, Canfield, Mark A., Bermejo‐Sanchez, Eva, Cragan, Janet D., Dastgiri, Saeed, De Walle, Hermien E. K., Feldkamp, Marcia L., Groisman, Boris, Gatt, Miriam, Hurtado‐Villa, Paula, Kallen, Karin, Landau, Daniella, Lelong, Nathalie, Lopez Camelo, Jorge S., Martínez, Laura, Morgan, Margery, Mutchinick, Osvaldo M., Nembhard, Wendy N., Pierini, Anna, Rissmann, Anke, Sipek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Zarante, Ignacio, Mastroiacovo, Pierpaolo
Publicado 2019

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

por Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.
Publicado 2023

Prevalence and mortality among children with anorectal malformation: A multi-country analysis

por Kancherla, Vijaya, Sundar, Manasvi, Lucita, Tandaki, Lux, Anke, Bakker, Marian K, Bergman, Jorieke EH, Bermejo-Sánchez, Eva, Canfield, Mark A., Dastgiri, Saeed, Feldkamp, Marcia L., Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallen, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Martinez, Laura Elia, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy N., Pierini, Anna, Sipek, Antonin, Stallings, Erin B., Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Zarante, Ignacio, Rissmann, Anke
Publicado 2023

Haploinsufficiency of SF3B2 causes craniofacial microsomia

por Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.
Publicado 2021