Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Cecilia, Mellado"'
Autor:
María Trinidad Hasbun Zegpi, Daniela Alfaro‐Sepúlveda, Luisa Schonhaut Berman, Cecilia Mellado Sagredo
Publikováno v:
JEADV Clinical Practice, Vol 3, Iss 2, Pp 726-728 (2024)
Externí odkaz:
https://doaj.org/article/4b37281180a04cc8a8f65622fbc41843
Autor:
Kathleen Strong, Judith Robb-McCord, Salimah Walani, Cecilia Mellado, Lorenzo D. Botto, Guillermo Lay-Son, Theresa Diaz, Tahmina Banu, Kokila Lakhoo, Anshu Banerjee
Publikováno v:
Global Health Action, Vol 17, Iss 1 (2024)
Background More children are surviving through interventions to address the infectious causes of under-5 mortality; subsequently, the proportion of deaths caused by birth defects is increasing. Prevention, diagnosis, treatment and care interventions
Externí odkaz:
https://doaj.org/article/416d9856cb0d42b99084fe1f5c03bd9d
Autor:
Helen Dolk, Boris Groisman, Joan Morris, Rosa Pardo, Elizabeth Limb, Iêda M Orioli, Adriana Benavides-Lara, María de la Paz Barboza-Arguello, Maria Aurora Canessa Tapia, Giovanny Vinícius Araújo de França, Jorge Holguin, Paula Margarita Hurtado-Villa, Marisol Ibarra Ramirez, Cecilia Mellado, Dania Maria Pastora Bucardo, Catherin Rodríguez, Ignacio Zarante
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss 1 (2021)
Externí odkaz:
https://doaj.org/article/5b0400fc4d8a4c33a2ef2fc7f22012d7
Autor:
Rosa Pardo, Marcela Vilca, Luis Villarroel, Tahera Davalji, John F. Obrycki, Maitreyi Mazumdar, Claudia Avila, Cecilia Mellado
Publikováno v:
Birth Defects Research. 114:259-266
In 2000, Chile's Ministry of Health mandated fortification of wheat flour with folic acid at a concentration of 2.2 mg/kg to prevent neural tube defects (NTDs), resulting in a 50% reduction in NTD prevalence. Concerns about possible collateral effect
Autor:
Enrique Norero, M. Alejandra Alarcon, Christopher Hakkaart, Tomas de Mayo, Cecilia Mellado, Marcelo Garrido, Gloria Aguayo, Marcela Lagos, Javiera Torres, Alfonso Calvo, Parry Guilford, Alejandro H. Corvalan
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 20, p 4980 (2019)
Germline pathogenic variants in the CDH1 gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize CDH1 mutations associated with HDGC from Chile, a country with one of the highe
Externí odkaz:
https://doaj.org/article/f15e752246844e1581858d5ad5b417e2
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Human Mutation. 43
Autor:
Ariadne R. Lima, Barbara M. Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio C. Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Cordoba, Erica C.C. Caldas Rosa, Hulya Kayserili, Virginia Kimonis, Erica Wu, Cecilia Mellado, Vineet Aggarwal, Antonio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A. L. Jorge, Chong A. Kim, Rachel Honjo, Débora R. Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yilmaz‐Gulec, Evren Gumus, Gülay C. Yilmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban–Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo W. Pereira, Paulo A. Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela M. Vianna‐Morgante, Claudia M. B. Carvalho, Juliana F. Mazzeu
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Universidade de São Paulo (USP)
instacron:USP
Human Mutation, 43, 7, pp. 900-918
Human Mutation, 43, 900-918
Hum Mutat
Contains fulltext : 252015.pdf (Publisher’s version ) (Open Access) Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89bd78d59d41fce955db143c3c377ec2
Autor:
Carola Goecke-Hochberger, Cecilia Mellado-Sagredo, Daniela Avila-Smirnow, Rosendo Lobo-Avilés, Hana Karime Rumié-Carmi, Oscar Contreras-Olea
Publikováno v:
Revista médica de Chile v.147 n.3 2019
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in th
Autor:
Hasbun Zegpi, María Trinidad1,2 (AUTHOR) trinityhasbun@gmail.com, Alfaro‐Sepúlveda, Daniela3 (AUTHOR), Schonhaut Berman, Luisa4 (AUTHOR), Mellado Sagredo, Cecilia5 (AUTHOR)
Publikováno v:
JEADV Clinical Practice. Jun2024, Vol. 3 Issue 2, p726-728. 3p.
Autor:
Carlos Ferreira, Karina C. Silveira, Virginia Fano, Rosario Ramos Mejía, Cristián García, Cecilia Mellado, Cynthia Silveira, Denise P. Cavalcanti, Maria Dora Jazmin Lacarrubba-Flores, Mariana del Pino, Angélica Moresco, Silvia Caino, Guillermo Lay-Son
Publikováno v:
Am J Med Genet C Semin Med Genet
Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources