Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Paula Hurtado‐Villa"'
Autor:
Nancy Gelvez, Paula Hurtado-Villa, Silvia Flórez, Anne Charlotte Brieke, Francisco Rodríguez, Ana María Bertolotto, Martha L. Tamayo
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 41, Iss 3, Pp 388-395 (2021)
La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retin
Externí odkaz:
https://doaj.org/article/7513216c36844420b28137d862530166
Autor:
Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF
Externí odkaz:
https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 40, Iss 1, Pp 34-42 (2020)
Introducción. Los defectos congénitos afectan entre el 2 y el 3 % de los recién nacidos, y son una carga importante entre las causas de morbilidad y mortalidad infantil en los primeros cinco años de vida. En Colombia, fueron la segunda causa de m
Externí odkaz:
https://doaj.org/article/19e50eb1c8b840088b8a56fbe457979b
Autor:
Ignacio Zarante, Paula Hurtado-Villa, Salimah R. Walani, Vijaya Kancherla, Jorge López Camelo, Roberto Giugliani, Boris Groisman, Christopher P. Howson, Pablo Durán
Publikováno v:
Revista Panamericana de Salud Pública, Vol 43, Iss 2, Pp 1-6 (2019)
Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial asse
Externí odkaz:
https://doaj.org/article/35e6d49b14a849f792b929d0b0064eee
Autor:
Daniela V. Luquetti, Carrie L. Heike, Ignacio Zarante, Andrew E. Timms, Jonas Gustafson, Harry Pachajoa, Gloria L. Porras‐Hurtado, Paola Ayala‐Ramirez, Milagros M. Duenas‐Roque, Natalia Jimenez, Lina M. Ibanez, Paula Hurtado‐Villa
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to
Externí odkaz:
https://doaj.org/article/ac22a56482324882a03a2f67acf1ced2
Autor:
Javier Oliver, Rosalía Quezada Urban, Claudia Alejandra Franco Cortés, Clara Estela Díaz Velásquez, Ana Lorena Montealegre Paez, Rafael Adrián Pacheco-Orozco, Carlos Castro Rojas, Reggie García-Robles, Juan Javier López Rivera, Sandra Gaitán Chaparro, Ana Milena Gómez, Fernando Suarez Obando, Gustavo Giraldo, Maria Isabel Maya, Paula Hurtado-Villa, Ana Isabel Sanchez, Norma Serrano, Ana Isabel Orduz Galvis, Sandra Aruachan, Johanna Nuñez Castillo, Cecilia Frecha, Cecilia Riggi, Federico Jauk, Eva María Gómez García, Claudia Lorena Carranza, Vanessa Zamora, Gabriela Torres Mejía, Isabelle Romieu, Carlos Arturo Castañeda, Miluska Castillo, Rina Gitler, Adriana Antoniano, Ernesto Rojas Jiménez, Luis Enrique Romero Cruz, Fernando Vallejo Lecuona, Iván Delgado Enciso, Abril Bernardette Martínez Rizo, Alejandro Flores Carranza, Verónica Benites Godinez, Claudia Fabiola Méndez Catalá, Luis Alonso Herrera, Yolanda Irasema Chirino, Luis Ignacio Terrazas, Sandra Perdomo, Felipe Vaca Paniagua
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ~5–10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin
Externí odkaz:
https://doaj.org/article/eba89dd27f514d0bbd9a88062ba645f0
Publikováno v:
Revista Cubana de Estomatología, Vol 55, Iss 2, Pp 36-41 (2018)
Introduction: amelogenesis imperfecta consists of a group of hereditary disorders that affect the development of the dental enamel in such a way that the clinical appearance of all or almost all primary and permanent teeth is compromised. Objective:
Externí odkaz:
https://doaj.org/article/f93bb9ec8c3c46fd8bee4636e6c0d540
Publikováno v:
Revista Cubana de Estomatología, Pp 1-10
Externí odkaz:
https://doaj.org/article/0e34d1e779c546848e345e3f8e243953
Autor:
Vijaya Kancherla, Manasvi Sundar, Lucita Tandaki, Anke Lux, Marian K Bakker, Jorieke EH Bergman, Eva Bermejo‐Sánchez, Mark A. Canfield, Saeed Dastgiri, Marcia L. Feldkamp, Miriam Gatt, Boris Groisman, Paula Hurtado‐Villa, Kärin Kallen, Danielle Landau, Nathalie Lelong, Jorge Lopez‐Camelo, Laura Elia Martinez, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Amy E. Nance, Wendy N. Nembhard, Anna Pierini, Antonin Sipek, Erin B. Stallings, Elena Szabova, Giovanna Tagliabue, Wladimir Wertelecki, Ignacio Zarante, Anke Rissmann
Publikováno v:
Birth defects research, 115(3), 390-404. Wiley
Purpose: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM).Methods: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3add8e5a2585dd0e8612b0192bfb18e
https://doi.org/10.1002/bdr2.2129
https://doi.org/10.1002/bdr2.2129
Autor:
Anne Charlotte Brieke, Paula Hurtado-Villa, Silvia Florez, Francisco Rodríguez, Ana María Bertolotto, Martha L. Tamayo, Nancy Gelvez
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 41, Iss 3, Pp 388-395 (2021)
Biomédica
Biomédica
The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch memb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61bbacee4f5b6c81ad067a243e49fb52
https://revistabiomedica.org/index.php/biomedica/article/view/5604
https://revistabiomedica.org/index.php/biomedica/article/view/5604