BENAVIDES GONZALEZ, FELIPE ORLANDO
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BENAVIDES GONZALEZ, FELIPE ORLANDO
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fbenavides@udd.cl

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ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS

2019 , Gonzalo Dominguez-Menéndez , Helena Poggi Mayorga , Mónica Arancibia , BENAVIDES GONZALEZ, FELIPE ORLANDO , Alejandro Martinez-Aguayo

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Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome

2019 , Abraham Urzua , Sofia Burattini , Constanza Pinochet , BENAVIDES GONZALEZ, FELIPE ORLANDO , REPETTO LISBOA, MARIA GABRIELA

AbstractBeckwith–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.

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Estimating multinomial logit models with endogenous variables: Control function versus two adapted approaches

2024 , Louis de Grange , Felipe González , Matthieu Marechal , TRONCOSO OLCHEVSKAIA, RODRIGO VLADISLAV

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Rett Syndrome: MECP2 gene molecular analysis in Chilean patients [Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas]

2019 , Carolina Aron W. , Geraldinne Rauch L. , BENAVIDES GONZALEZ, FELIPE ORLANDO , REPETTO LISBOA, MARIA GABRIELA

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.

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Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals

2015 , BENAVIDES GONZALEZ, FELIPE ORLANDO , Nicole Grossman , Helena Poggi , Elena Nieto , Antonio Bertrán , Daniel Araos , Marcos Vásquez , Ignaz Ibarra , Felipe Cáceres , Karena Espinoza , Marcel Lagos , REPETTO LISBOA, MARIA GABRIELA

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Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

2018 , Tingwei Guo , Alexander Diacou , Hiroko Nomaru , Donna M McDonald-McGinn , Matthew Hestand , Wolfram Demaerel , Liangtian Zhang , Yingjie Zhao , Francisco Ujueta , Jidong Shan , Cristina Montagna , Deyou Zheng , Terrence B Crowley , Leila Kushan-Wells , Carrie E Bearden , Wendy R Kates , Doron Gothelf , Maude Schneider , Stephan Eliez , Jeroen Breckpot , Ann Swillen , Jacob Vorstman , Elaine Zackai , BENAVIDES GONZALEZ, FELIPE ORLANDO , Beverly S Emanuel , REPETTO LISBOA, MARIA GABRIELA , Anne S Bassett , Joris R Vermeesch , Christian R Marshall , Bernice E Morrow

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Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement

2016 , Diego Ossandon , Alan Kastner , ZANOLLI DE SOLMINIHAC, MARIO TOMAS , Federica Solanes , PEREZ, VERONICA , BENAVIDES GONZALEZ, FELIPE ORLANDO , REPETTO LISBOA, MARIA GABRIELA , Carol L. Shields

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Los autores aludidos ofrecieron la siguiente réplica

2016 , REPETTO LISBOA, MARIA GABRIELA , BENAVIDES GONZALEZ, FELIPE ORLANDO , DELGADO BECERRA, OROZIMBA IRIS

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A Road Pricing Model for Congested Highways Based on Link Densities

2017 , Louis de Grange , TRONCOSO OLCHEVSKAIA, RODRIGO VLADISLAV , Felipe González

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.

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Re: Efecto del polimorfismo-1639G > A del gen VKORC1 sobre la dosis de anticoagulantes orales acenocumarol y warfarina en pacientes chilenos: Posibles modelos de herencia

2016 , REPETTO LISBOA, MARIA GABRIELA , BENAVIDES GONZALEZ, FELIPE ORLANDO , DELGADO BECERRA, OROZIMBA IRIS

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