Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Gloria L. Porras"'
Autor:
Julio C. Sánchez, Gloria L. Porras, Maria A. Torres, Juan C. Olaya, Andrés M. García, Laura V. Muñoz, Heidy Y. Mesa, Andrés F. Ramírez
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Clowning has been used in many hospitals, particularly for children. Studies suggest the effectiveness of this methodology, but more evidence is needed. The aim of this study was to evaluate the impact of a humour therapy interven
Externí odkaz:
https://doaj.org/article/864c36bc309d42a9b3587e4b45176aaf
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe0eb5e46567eb0f58852b479bbc9fc
https://doi.org/10.7705/biomedica.6178
https://doi.org/10.7705/biomedica.6178
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255fcb447561e47784a9098764ba9e65
https://pubmed.ncbi.nlm.nih.gov/36260083
https://pubmed.ncbi.nlm.nih.gov/36260083
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc0001b210bf23bed9424ecc2e651f3c
https://doi.org/10.2139/ssrn.3207915
https://doi.org/10.2139/ssrn.3207915
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::082f104d18a43717ea1d0dcc8bd6957b
https://doi.org/10.1159/000109845
https://doi.org/10.1159/000109845
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68190517e81fd38933eb742ded8ab03
https://pubmed.ncbi.nlm.nih.gov/22328447
https://pubmed.ncbi.nlm.nih.gov/22328447