Browsing by Author "XX676944"

Now showing items 1-8 of 8

    • Effects of folic acid fortification on orofacial clefts prevalence: a meta-analysis 
      Millacura, Natalia; Pardo Vargas, Rosa; Cifuentes Ovalle, Lucía; Suazo Sanhueza, José Lorenzo (Cambridge University Press, 2017)
      Objective: Orofacial clefts (OFC) are the most prevalent craniofacial birth defect. Folic acid (FA) supplementation has been demonstrated as an effective intervention to reduce risk of OFC occurrence. However, the effect ...
    • Estudio genético de una familia chilena con tres fenotipos dentales diferentes 
      Pardo Vargas, Rosa; Castillo Taucher, Silvia; Vieira, Alexandre R. (SOC MEDICA SANTIAGO, 2006-12)
      Background: Congenital dental anomalies can affect up to 25% of the population. Aim: To report the genetic study of a family with dental anomalies. Material and methods: We studied a Chilean family presenting with three ...
    • Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile 
      Suazo, José; Pardo Vargas, Rosa; Castillo, Silvia; Martin, Luz Maria; Rojas, Francisca; Santos, José Luis; Rotter, Karin; Solar, Margarita; Tapia, Eva (SAGE, 2013)
      Obese/diabetic mothers present a higher risk to develop offspring with myelomeningocele (MM), evidence supporting the role of energy homeostasis-related genes in neural tube defects. Using polymerase chain reaction–restriction ...
    • Gene-gene interaction for nonsyndromic cleft lip with or without cleft palate in chilean case-parent trios 
      Suazo, José; Santos, José Luis; Colombo, Alicia; Pardo Vargas, Rosa (Elsevier, 2018-07)
      Objective: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a birth defect for which several genes susceptibility genes been proposed. Consequently, it has been suggested that many of these genes belong to ...
    • Maternal biomarkers of methylation status and non-syndromic orofacial cleft risk: a meta-analysis 
      Blanco Castillo, Rafael; Colombo Flores, Alicia; Pardo Vargas, Rosa; Suazo Sanhueza, José Lorenzo (Elsevier, 2016)
      Animal models have shown evidence of the role of maternal methyl donor status and its metabolism (one-carbon metabolism) in normal embryonic maxillofacial development. Nevertheless, studies in humans have shown conflicting ...
    • MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile 
      Ramírez Chau, Cristian Adolfo; Blanco Castillo, Rafael; Colombo Flores, Alicia; Pardo Vargas, Rosa; Suazo Sanhueza, José Lorenzo (Wiley Blackwell, 2016)
      Objective The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or ...
    • Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants 
      Cáceres Rojas, Gabriela; Salamanca, Carlos; Krause, Bernardo J.; Recabarren, Andrea S.; Recabarren, Pamela; Pantoja Parada, Pedro; Leiva Villagra, Noemi; Pardo Vargas, Rosa; Santos, José Luis; Suazo Sanhueza, José Lorenzo (Future Medicine, 2020)
      Aim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: ...
    • Spina bifida in Chile: improving every day 
      Pardo Vargas, Rosa (IOS Press, 2017)
      In the last two decades in Chile events that have taken place in order to improve the prevention, management, and treatment of patients with spina bifida in Chile. Aspects of the implementation of a fortification of wheat ...