BENAVIDES GONZALEZ, FELIPE ORLANDO
Preferred name
BENAVIDES GONZALEZ, FELIPE ORLANDO
Main Affiliation
Email
fbenavides@udd.cl
Scopus Author ID
56425688700
17 results
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Item type:Publication, Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome(2019); <jats:title>Abstract</jats:title><jats:p>Beckwith–Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CDKN1C sequencing. We present a newborn with placentomegaly, hyperinsulinism and adrenal cytomegaly, but no typical external features of BWS. The patient had normal genetic studies in blood. However, adrenal and liver tissues showed hypermethylation of IC1 and hypomethylation of IC2. Microsatellite analysis confirmed mosaic paternal uniparental disomy. This study demonstrates the importance of analyzing additional tissues to reduce underdiagnosis of somatic mosaicism in BWS.</jats:p>6 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals(2015); Scopus© Citations 12 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Rett Syndrome: MECP2 gene molecular analysis in Chilean patients [Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas](2019); <jats:p>Introducción: El síndrome de Rett (RTT) es un trastorno neurológico progresivo caracterizado por producir una regresión del desarrollo psicomotor en niñas previamente sanas. La mayoría de los casos son causados por variantes patogénicas en el gen MECP2, que codifica para la proteína methyl CpGbinding protein 2.Objetivo: Describir la frecuencia y el tipo de variantes patogénicas en MECP2 en mujeres chilenas con diagnóstico clínico de RTT.Pacientes y Método: Se invitó a participar en este estudio a mujeres chilenas con sospecha clínica de RTT. Se reunió información clínica mediante un cuestionario. Se analizaron variantes patogénicas en MECP2 mediante el método de secuenciación de Sanger y se utilizó Multiple Ligation-dependant Probe Amplification (MLPA) para la detección de duplicaciones y deleciones.Resultado: El estudio incluyó 14 pacientes con sospecha de RTT, de las cuales 8 (57%) pacientes tuvieron variantes patogénicas. Las restantes permanecen sin diagnóstico molecular.Conclusión: Variantes patogénicas en MECP2 están presentes en pacientes chilenas con RTT. Es probable que haya otros genes o diagnósticos involucrados en las pacientes sin hallazgos en MECP2. A partir de este trabajo, el diagnóstico molecular está disponible en Chile.</jats:p>Scopus© Citations 3 7 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Scopus© Citations 25 2 - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome(2018); 1Scopus© Citations 142 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies(2020); ; 9Scopus© Citations 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS(2019); Alejandro Martinez-AguayoScopus© Citations 6 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A Road Pricing Model for Congested Highways Based on Link Densities(2017); <jats:p>A road pricing model is presented that determines tolls for congested highways. The main contribution of this paper is to include density explicitly in the pricing scheme and not just flow and time. The methodology solves a nonlinear constrained optimization problem whose objective function maximizes toll revenue or highway use (2 scenarios). The results show that the optimal tolls depend on highway design and the level of congestion. The model parameters are estimated from a Chile’s highway data. Significant differences were found between the highway’s observed tolls and the optimal toll levels for the two scenarios. The proposed approach could be applied to either planned highway concessions with recovery of capital costs or the extension or retendering of existing concessions.</jats:p>Scopus© Citations 6 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients(2017); 29 1Scopus© Citations 27