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The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(W.B. Saunders Ltd, 2019)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...
Malignant melanoma in Chile: different site distribution between private and state patients
(Sociedad de Biología de Chile, 2014)
Background: The body site location of primary Malignant Melanoma (MM) has been correlated with prognosis and
survival. Ethnic, genetics, sun exposure factors are related to the anatomical distribution of MM. Low and ...
Geografía génica de Chile. Distribución regional de los aportes genéticos americanos, europeos y africanos
(Sociedad Médica de Santiago, 2014)
Background: The geographical distribution of genes plays a key role in
genetic epidemiology. The Chilean population has three major stem groups
(Native American, European and African). Aim: To estimate the regional rate ...
Factores genéticos que inciden en la resistencia a enfermedades infecciosas en salmónidos y su aplicación en programas de mejoramiento
(Universidad Austral de Chile, 2010-12-23)
El control de las enfermedades infecciosas es fundamental en el
éxito del cultivo del salmón. El mejoramiento genético de la resistencia
a enfermedades puede otorgar una opción factible y sustentable para
el control de ...
Multisystem Component Phenotypes of Bipolar Disorder for Genetic Investigations of Extended Pedigrees.
(American Medical AssociationGrupo de Investigación en Psiquiatría GIPSIChicago, Estados Unidos, 2023)
Folate transporters in placentas from preterm newborns and their relation to cord blood folate and Vitamin B12 levels
(Public Library of Science, 2017)
Folate deficiency during pregnancy has been related to low birth weight, preterm (PT) birth
and other health risks in the offspring; however, it is unknown whether prematurity is related
to low folate transport through ...
Sexual dimorphism in skin, eye and hair color and the presence of freckles in Chilean teenagers from two socioeconomic strata Dimorfismo sexual en la pigmentación de la piel, color de ojos y pelo y presencia de pecas en adolescentes chilenos en dos estrat
(2002)
Background: The risk of skin cancer is correlated with skin colour. Pigmentation protects against the effects of UV radiation. Aim: To study skin, eyes and hair colour in Chilean teenagers. Material and methods: The ...
Reduced sulfation of MUC5B is linked to xerostomia in patients with Sjögren syndrome
(2008)
Objectives: MUC5B contains sulfated and sialylated
oligosaccharides that sequester water required for
moisturising the oral mucosa. Xerostomia, in patients with
Sjo¨gren syndrome, is generally associated with ...
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype
(Wiley, 2020)
Objective A precision medicine approach is used to improve treatment of patients with monogenic diabetes. Herein, we searched SU efficiency according to the genotype-phenotype correlation, dosage used, and side effects. ...