Search Results - "Mellado, Cecília"

Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile by López-Camelo, Jorge S., Orioli, Iêda M., Dutra, Maria da Graça, Nazer-Herrera, Julio, Rivera, Nelson, Ojeda, María Elena, Canessa, Aurora, Wettig, Elisabeth, Fontannaz, Ana María, Mellado, Cecília, Castilla, Eduardo E.

“…To verify whether the decreasing neural tube defects birth prevalence rates in Chile are due to folic acid fortification or to pre‐existing decreasing trends,…”
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Pai syndrome: Report of seven South American patients by Guion‐Almeida, Maria Leine, Mellado, Cecília, Beltrán, Constanza, Richieri‐Costa, A.

“…Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism,…”
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Vascular anomalies in Koolen‐de Vries syndrome: Expanding the spectrum of cutaneous findings by Hasbun Zegpi, María Trinidad, Alfaro‐Sepúlveda, Daniela, Schonhaut Berman, Luisa, Mellado Sagredo, Cecilia

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Action against birth defects: if not now, when? by Strong, Kathleen, Robb-McCord, Judith, Walani, Salimah, Mellado, Cecilia, Botto, Lorenzo D, Lay-Son, Guillermo, Diaz, Theresa, Banu, Tahmina, Lakhoo, Kokila, Banerjee, Anshu

“…More children are surviving through interventions to address the infectious causes of under-5 mortality; subsequently, the proportion of deaths caused by birth…”
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Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer by Norero, Enrique, Alarcon, M Alejandra, Hakkaart, Christopher, de Mayo, Tomas, Mellado, Cecilia, Garrido, Marcelo, Aguayo, Gloria, Lagos, Marcela, Torres, Javiera, Calvo, Alfonso, Guilford, Parry, Corvalan, Alejandro H

“…Germline pathogenic variants in the gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to…”
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Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017 by 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

“…ObjectiveThe Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study…”
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Dandy–walker malformation with postaxial polydactly: a new case of Pierquin syndrome by Passalacqua, Cristóbal A., Villegas, Victor P., Aracena, Mariana I., Mellado, Cecilia X.

“…The combination of Dandy–Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of…”
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Basic concepts about paternity testing by Lagos, Marcela, Poggi, Helena, Mellado, Cecilia

“…Nowadays, the analysis of genetic markers is a very important and validated tool for the identification of individuals, and for paternity testing. To do so,…”
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Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: Caso clínico by Contreras-Olea, Oscar, Goecke-Hochberger, Carola, Rumié-Carmi, Hana Karime, Lobo-Avilés, Rosendo, Mellado-Sagredo, Cecilia, Avila-Smirnow, Daniela

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Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review by Munoz-Osores, Elizabeth, Piñones, Mervin, Barriga, Francisco, Wietstruck, María Angélica, Pérez-Mateluna, Guillermo, Mellado, Cecilia, Aracena, Mariana, Parra, Rodrigo, García, Cristián, Borzutzky, Arturo

“…Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due…”
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Impacto de la enfermedad genética en los ingresos hospitalarios en un Servicio de Pediatría by Moya, Ana, Hernández, Marta, Mellado, Cecilia

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Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile by Pardo, Rosa, Vilca, Marcela, Villarroel, Luis, Davalji, Tahera, Obrycki, John F., Mazumdar, Maitreyi, Avila, Claudia, Mellado, Cecilia

“…Background 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…”
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Back Cover, Volume 43, Issue 7 by Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

“…Back Cover: The cover image is based on the Research Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome by Juliana Forte Mazzeu de…”
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Skeletal dysplasias in Latin America by Cavalcanti, Denise P., Fano, Virginia, Mellado, Cecilia, Lacarrubba‐Flores, Maria Dora J., Silveira, Cynthia, Silveira, Karina C., Pino, Mariana, Moresco, Angelica, Caino, Silvia, Ramos Mejía, Rosario, García, Cristián J., Lay‐Son, Guillermo, Ferreira, Carlos R.

“…Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a…”
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Conceptos básicos sobre el estudio de paternidad by Lagos L, Marcela, Poggi M, Helena, Mellado S, Cecilia

“…El análisis de marcadores genéticos se ha convertido en una herramienta muy importante y ampliamente reconocida para la identificación de individuos y para el…”
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Prevalence of genetic diseases in admissions to a tertiary care hospital pediatric service by Moya, Ana, Hernández, Marta, Mellado, Cecilia

“…With the epidemiological changes, the role of genetic factors as a cause of morbidity and mortality is increasing, changing disease patterns of patients…”
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Pseudohypoparathyroidism: report of two cases of late presentation by Peña, Carolina, Pinochet, Constanza, Florenzano, Pablo, Mendoza, Carolina, Garfias, Carolina, Aracena, Marcela, Mellado, Cecilia, González, Gilberto

“…Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common…”
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Response to "The Role of Cytomegalovirus in Schizencephaly" by Spalice et al by Poduri, Annapurna, Mellado, Cecilia, Walsh, Christopher A.

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A New Presentation of the Chimeric CYP11B1/CYP11B2 Gene With Low Prevalence of Primary Aldosteronism and Atypical Gene Segregation Pattern by Carvajal, Cristian A, Campino, Carmen, Martinez-Aguayo, Alejandro, Tichauer, Juan E, Bancalari, Rodrigo, Valdivia, Carolina, Trejo, Pamela, Aglony, Marlene, Baudrand, René, Lagos, Carlos F, Mellado, Cecilia, Garcia, Hernán, Fardella, Carlos E

“…Familial hyperaldosteronism type I is caused by an unequal crossover of 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes, giving rise to a…”
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A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects by Poggi, Helena, Vera, Alejandra, Avalos, Carolina, Lagos, Marcela, Mellado, Cecilia, Aracena, Mariana, Aravena, Teresa, Garcia, Hernan, Godoy, Claudia, Cattani, Andreina, Reyes, Loreto, Lacourt, Patricia, Rumie, Hana, Mericq, Veronica, Arriaza, Marta, Martinez-Aguayo, Alejandro

“…Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic…”
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