Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Gloria L. Porras"'
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
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:
Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types
Externí odkaz:
https://doaj.org/article/39510fa3b7144e4abecda9ad2130fbf7
Autor:
Silvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, José M Lorenzo-Salazar, Miguel López de Heredia, Inés Quintela, Rafaela González-Montelongo, Vivian Nogueira Silbiger, Marta Sevilla Porras, Jair Antonio Tenorio Castaño, Julian Nevado, Jose María Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Álvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, María J Arranz, Maria-Jesus Artiga, Raúl C Baptista-Rosas, María Barreda- Sánchez, Moncef Belhassen-Garcia, Joao F Bezerra, Marcos AC Bezerra, Lucía Boix-Palop, María Brion, Ramón Brugada, Matilde Bustos, Enrique J Calderón, Cristina Carbonell, Luis Castano, Jose E Castelao, Rosa Conde-Vicente, M Lourdes Cordero-Lorenzana, Jose L Cortes-Sanchez, Marta Corton, M Teresa Darnaude, Alba De Martino-Rodríguez, Victor del Campo-Pérez, Aranzazu Diaz de Bustamante, Elena Domínguez-Garrido, Rocío Eirós, María Carmen Fariñas, María J Fernandez-Nestosa, Uxía Fernández-Robelo, Amanda Fernández-Rodríguez, Tania Fernández-Villa, Manuela Gago-Dominguez, Belén Gil-Fournier, Javier Gómez-Arrue, Beatriz González Álvarez, Fernan Gonzalez Bernaldo de Quirós, Anna González-Neira, Javier González-Peñas, Juan F Gutiérrez-Bautista, María José Herrero, Antonio Herrero-Gonzalez, María A Jimenez-Sousa, María Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martín-López, Vicente Martín, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F Martinez-Resendez, Angel Martinez-Perez, Juliana F Mazzeu, Eleuterio Merayo Macías, Pablo Minguez, Victor Moreno Cuerda, Silviene F Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney PC Santos, Patricia Pérez-Matute, Patricia Perez, M Elena Pérez-Tomás, Teresa Perucho, Mellina Pinsach-Abuin, Guillermo Pita, Ericka N Pompa-Mera, Gloria L Porras-Hurtado, Aurora Pujol, Soraya Ramiro León, Salvador Resino, Marianne R Fernandes, Emilio Rodríguez-Ruiz, Fernando Rodriguez-Artalejo, José A Rodriguez-Garcia, Francisco Ruiz-Cabello, Javier Ruiz-Hornillos, Pablo Ryan, José Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yáñez, Ruth Zarate, Itziar de Rojas, Agustín Ruiz, Pascual Sánchez, Luis Miguel Real, SCOURGE Cohort Group, Encarna Guillen-Navarro, Carmen Ayuso, Esteban Parra, José A Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo
Publikováno v:
eLife, Vol 13 (2024)
The genetic basis of severe COVID-19 has been thoroughly studied, and many genetic risk factors shared between populations have been identified. However, reduced sample sizes from non-European groups have limited the discovery of population-specific
Externí odkaz:
https://doaj.org/article/011994bb968f4b9ab2fc855d5fdf6178
Autor:
Jorge Mario Estrada, Gloria L. Porras, María Isabel Mojica, Natalia Cardona, Sandra Jhoana Ocampo
Publikováno v:
Biomédica, Volume: 42 Supplement 1, Pages: 89-99, Published: 01 MAY 2022
Resumen Introducción. La atrofia muscular espinal es una enfermedad neurodegenerativa huérfana de origen genético que afecta las neuronas motoras del asta anterior de la médula espinal, y produce atrofia y debilidad muscular. En Colombia, son poc
Autor:
Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)
Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic
Publikováno v:
Artificial Intelligence in Neuroscience: Affective Analysis and Health Applications ISBN: 9783031062414
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2b4dacb9131ece421be61553e56faae
https://doi.org/10.1007/978-3-031-06242-1_54
https://doi.org/10.1007/978-3-031-06242-1_54
Publikováno v:
SSRN Electronic Journal.
Autor:
Chul Hee Lee, Ashish Dhir, Katsushige Ono, Masahiko Tsujii, Yan Ping Zhao, Anthony Koller, Carlos Isaza, Guo Xin Cui, Xiao-Yun Yang, Shinji Miyamoto, Ti Jun Dai, Tohru Nakamura, Zheng-Tang Chen, Isil Ozakca, Motoko Yamabe, Gloria L. Porras, Ebru Arioglu, Shamarendra Sanyal, Jun-Hua Yuan, Marlyse Brawand, Bobby D. Nossaman, Hiroshi Eguchi, Yong Fei Tan, Patricia Digon, Zhi Jun Ge, Shuji Ishii, Julio C. Sánchez, Guo Jun Liu, Shinpei Fujiki, Chae-Seo Rhee, Tae-Bin Won, Tetsuo Hadama, Li Cai Zhang, Jian-Fei Gao, Yin Ming Zeng, Yan Guo, Christian Humpel, Shingo Tsuji, Mohammed M. Nazim, Séverine Crettol, S.K. Kulkarni, J. Cardona, Sunao Kawano, Si Whan Kim, Yang-Gi Min, Lisa C. Loram, Sahika Guner, Yong Min Kim, Philip J. Kadowitz, G. Bedoya, Albert L. Hyman, Hikaru Tanaka, Jun Wang, Karma V. Moser, Kazuhide Nishimaru, Tsutomu Nishida, Kerry Powell Golay, Julieta Henao, Shojirou Isomoto, Li Chang, Yujiro Hayashi, A. Tanju Ozcelikay, Paul R. Waldron, Yoshio Tanaka, Bi-Cheng Zhang, Koki Shigenobu, Yan-Qing Li, V.Melih Altan, Jun Ke Wang, Syed R. Baber, Chin B. Eap, Peter Kamerman
Publikováno v:
Pharmacology. 80:313-316
Autor:
Juan Carlos Sepúlveda-Arias, William Arciniegas, Julieta Henao, Carlos Isaza, Bertha Inés Agudelo, Leonardo Beltrán, Gloria L. Porras
Publikováno v:
Pediatric pulmonology. 47(9)
Asthma is a chronic and recurrent disease. Its high prevalence around the world is the result of a complex interaction between genetic and environmental factors. The genetic aspects of susceptibility, severity, and response to treatment in asthma are