Výsledky vyhledávání - "Victor Manuel Huertas-Quiñones"

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

Autor: Dora Janeth Fonseca-Mendoza, Rodrigo Cabrera, Camilo José Hernandez-Toro, Victor Manuel Huertas-Quiñones, Juan Diego Bonilla, Camilo Andres Velandia-Piedrahita, Adrien Morel, Marta Catalina Miranda-Fernández, David Castillo, Carlos Martín Restrepo

Publikováno v: The Application of Clinical Genetics. 13:233-240

The ELN gene encodes elastin, a fundamental protein of the extracellular matrix that confers elasticity to different tissues including blood vessels. The formation of elastin fibers is a complex process involving monomer coacervation and subsequent c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4bad666abd07964905773d62b732256a
https://doi.org/10.2147/tacg.s282240

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Impact of pulmonary hypertension and congenital heart disease with hemodynamic repercussion on the severity of acute respiratory infections in children under 5 years of age at a pediatric referral center in Colombia, South America

Autor: Carlos E. Rodriguez-Martinez, Diego A Lozano-Espinosa, Victor Manuel Huertas-Quiñones

Publikováno v: Repositorio U. El Bosque
Universidad El Bosque
instacron:Universidad El Bosque

Background:Acute respiratory infection is one of the main causes of morbidity in children. Some studies have suggested that pulmonary hypertension and congenital heart disease with haemodynamic repercussion increase the severity of respiratory infect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8daf0cca6b32a97763da8e1d51a56866
https://pubmed.ncbi.nlm.nih.gov/32993838

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Paediatric cardiomyopathies: Echocardiographic diagnosis, clinical profile, and demographic characteristics: The experience of a tertiary referral centre for Latin American paediatric cardiology

Autor: Valeria Peña-Trujillo, Laura C Alarcón-Forero, Camilo F Mestra, Victor Manuel Huertas-Quiñones, Mariana Villaveces, Sebastian Gallo-Bernal

Publikováno v: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Background:Although multiple studies have been conducted in the adult population, there is a vast knowledge gap regarding the epidemiologic characteristics of cardiomyopathies in the paediatric population. This issue is even more crucial when the pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd6ade471faff59da4e0ab83c705c027
https://repository.urosario.edu.co/handle/10336/23639

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Identification of a new candidate locus for ebstein anomaly in 1p36.2

Autor: Rodrigo Cabrera, Victor-Manuel Huertas-Quiñones, Carlos Martín Restrepo, Marta-Catalina Miranda-Fernández, Camilo-José Hernández-Toro, Rossi Quero, Silvia Ramírez-Oyaga, Paul Laissue, Magally Barrera-Castañeda, Claudia Tamar Silva

Publikováno v: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2601c190c18ae8c29dd4868a17dc3e
https://repository.urosario.edu.co/handle/10336/22625

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