Search Results - "TAUCHER, SILVIA CASTILLO"

Medical genetics and genomic medicine in Chile: opportunities for improvement by Castillo Taucher, Silvia

“…Medical genetics and genomic medicine in Chile: opportunities for improvement…”
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Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America by Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Oliveira, Joao Bosco, Rico-Restrepo, Mariana, Rozenfeld, Paula, Zarante, Ignacio, Gonzaga-Jauregui, Claudia

“…Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with…”
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A pigmentary skin defect is a new finding in Marshall-Smith syndrome by Passalacqua, Cristóbal, Melo, Camila, Martín, Luz María, Rojas, Francisca, Sanz, Patricia, Taucher, Silvia Castillo, Aranibar, Ligia

“…Marshall–Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation,…”
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Genetic markers in essential hypertension by Passalacqua, Cristóbal, Taucher, Silvia Castillo

“…Essential hypertension (HTA) is a multifactorial disease and in Chile, its prevalence is 33.7%. There is a genetic predisposition to develop hypertension,…”
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Services for the care and prevention of birth defects. Reduced report of a World Health Organization and March of Dimes Foundation meeting by Castillo Taucher, Silvia

“…On 17-19 May 2006, the World Health Organization (WHO) and the March of Dimes Birth Defects Foundation held a meeting in Geneva: The Management of Birth…”
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Servicios para la atención y la prevención de defectos congénitos: Síntesis de una reunión de la Organización Mundial de la Salud y la Fundación March of Dimes by Castillo Taucher, Silvia

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Estudio cromosómico en abortos espontáneos by Castillo Taucher, Silvia, Fuentes Soto, Ana María, Paulos Millanao, Alejandro, de la Rosa Rebaza, Eduardo

“…Aproximadamente 15% de todos los embarazos clínicos terminan en aborto espontáneo. La causa más frecuente de aborto espontáneo es una anomalía cromosómica…”
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Genetic services in Chile by Taucher, Silvia Castillo

“…Demographic changes in Chile have positioned congenital malformations as a major cause of infant morbidity and mortality. At the same time, medical genetics…”
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Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis by Vargas, Rosa Andrea Pardo, Maegawa, Gustavo Henrique Boff, Taucher, Silvia Castillo, Leite, Júlio César L., Sanz, Patricia, Cifuentes, Juan, Parra, Mauro, Muñoz, Hernán, Maranduba, Carlos Magno, Passos‐Bueno, Maria R.

“…We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis…”
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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia by Royer-Bertrand, Beryl, Castillo-Taucher, Silvia, Moreno-Salinas, Rodrigo, Cho, Tae-Joon, Chae, Jong-Hee, Choi, Murim, Kim, Ok-Hwa, Dikoglu, Esra, Campos-Xavier, Belinda, Girardi, Enrico, Superti-Furga, Giulio, Bonafé, Luisa, Rivolta, Carlo, Unger, Sheila, Superti-Furga, Andrea

“…We and others have reported mutations in LONP1 , a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular,…”
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Raine syndrome: An overview by Faundes, Víctor, Castillo-Taucher, Silvia, Gonzalez-Hormazabal, Patricio, Chandler, Kate, Crosby, Andrew, Chioza, Barry

“…Abstract Raine syndrome (RS) is a bone dysplasia characterised by generalised osteosclerosis with periosteal bone formation, characteristic face, and brain…”
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Hemifacial myohyperplasia: An additional case by Taucher, Silvia Castillo, Vargas, Rosa A. Pardo, León, Doris Cauvi

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A CONSORTIUM FOR STUDYING THE EFFECTS OF THE PRENATAL EXPOSURE TO ALCOHOL, TOBACCO AND DRUGS IN LATIN AMERICA by Rojas-Martínez, Augusto, Sanseverino, María Teresa V, Del Campo, Miguel, Castillo-Taucher, Silvia

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Genetics of congenital deafness by Faundes, Víctor, Pardo, Rosa Andrea, Castillo Taucher, Silvia

“…Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor…”
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Actualización en medicina molecular: aplicaciones en la práctica clínica by Castillo Taucher, Silvia

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An update in molecular medicine: applications for clinical practice by Silvia Castillo Taucher

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Cáncer hereditario de colon: Aportes del diagnóstico genético molecular by ARAVENA, TERESA, PASSALACQUA, CRISTÓBAL, CASTILLO TAUCHER, SILVIA

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Estudio cromosómico en abortos espontáneos by Castillo Taucher, Silvia, Fuentes Soto, Ana María, Paulos Millanao, Alejandro, de la Rosa Rebaza, Eduardo

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Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother by Castillo-Taucher, S, Beca, J P, Sáez, R, Geldres, V

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Molecular and genetic studies for hereditary colon cancer in two patients and their families by Aravena, Teresa, Passalacqua, Cristóbal, Castillo Taucher, Silvia

“…About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other…”
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