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Study of Ras/MAPK pathway gene variants in Chilean patients with Cryptorchidism
(Blackwell Publishing Ltd, 2018)
© 2018 American Society of Andrology and European Academy of AndrologyCryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as ...
Prevalencia de variantes anatómicas naso-sinusales: Importancia en el informe radiológico y en la cirugía endoscópica funcional
(Sociedad Chilena de Radiología, 2014)
Objetivo: Describir la prevalencia en tomografía computada (TC) de las principales variantes anatómicas
de la región naso-sinusal en una muestra de población chilena y destacar la importancia de reportarlas
en el informe ...
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
(NATURE PUBLISHING GROUP, 2016)
Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase ...
Ca-v beta(2) transcription start site variants modulate calcium handling in newborn rat cardiomyocytes
(Springer, 2015)
In the heart, the main pathway for calcium influx is mediated by L-type calcium channels, a multi-subunit complex composed of the pore-forming subunit Ca(V)1.2 and the auxiliary subunits Ca-V alpha(2)delta(1) and Ca-V ...
First Symptoms and Neurocognitive Correlates of Behavioral Variant Frontotemporal Dementia
(IOS Press, 2016)
© 2016-IOS Press and the authors. All rights reserved. Background: Previous works highlight the neurocognitive differences between apathetic and disinhibited clinical presentations of the behavioral variant frontotemporal ...
Regional transient osteoporosis and reflex sympathetic dystrophy. Are they different entities or clinical variants of the same disease? Osteoporosis regional transitoria y distrofia simpática refleja. Entidades distintas o variantes clínicas de una misma
(1995)
We report a 50 years old male that evolved with alternating episodes of osteoporosis with pain, edema and erythema of both feet. The patient presented clinical and radiological evidences of both transient regional osteoporosis ...
Allograft reconstruction of Peroneus longus and brevis tendons tears arising from a single muscular belly. Case report and surgical technique
(Elsevier, 2015)
Anatomic variants of the peroneal tendons may cause tendon disorders. Moreover, there is a lack of
evidence on how to address chronic tendon pathology when a variant of the peroneal tendons is causing
the patient’s ...
Candidate gene variant effects on language disorders in Robinson Crusoe Island
(Taylor and Francis Ltd, 2019)
Background: Robinson Crusoe Island is a geographically and socially isolated settlement located over 600 km west of the Port of Valparíso, Chile. An unusually high incidence (30%) of the Chilean equivalent of developmental ...
Farmacogenómica como herramienta fundamental para la medicina personalizada: aplicaciones en la práctica clínica
(Sociedad Médica de Santiago, 2017)
Pharmacogenomics is an emergent field aimed at tailoring pharmacological
therapy. Genetic polymorphisms can modify the expression and
function of enzymes and proteins involved in drug metabolism, affecting
absorption, ...
Serum butyrylcholinesterase variants in Santiago Eastern District population Variantes de butirilcolinesterasa sérica en población de Santiago Oriente
(Sociedad Medica de Santiago, 1996)
Background: Succinylcholine causes prolonged apneas in a proportion if subjects that have genetical defect of butyrylcholinesterase, due to the presence of unusual alleles in the locus BCHE. Aim: To estimate allele frequencies ...