Search Results - "Yunis, Juan José"

Genetic variants in Colombian patients with inherited cardiac conditions by Rucinski, Cynthia, Yunis, Luz Karime, Rosas, Fernando, Santacruz, David, Camargo, Juan Manuel, Yunis, Juan José

“…Background Clinical and molecular diagnosis of inherited cardiac conditions is key to find at‐risk subjects and avoid preventable deaths. This study aimed to…”
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Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients by Duque, Andrés Felipe, Lopez, Juan Carlos, Benitez, Bruno, Hernandez, Helena, Yunis, Juan José, Fernandez, William, Arboleda, Humberto, Arboleda, Gonzalo

“…Mutations in the leucine-rich repeat kinase 2 gene (LRRK2 or Dardarin) are considered to be a common cause of autosomal dominant and sporadic Parkinson´s…”
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Concordance analysis between noninvasive prenatal testing (NIPT) and prenatal karyotyping for detecting fetal aneuploidies by Grajales-Ospina, Diana Carolina, Yunis-Hazbun, Luz Karime, Camacho-Montaño, Andrés Mauricio, Bautista-Charry, Alejandro Antonio, Niño-Alba, Reinaldo, Yunis, Juan José

“…Introduction:Noninvasive prenatal testing (NIPT) is a screening test for fetal aneuploidy with higher specificity and sensibility rates compared to traditional…”
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Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1 by Villamil-Osorio, Milena, Yunis, Luz Karime, Quintero, Ligia, Restrepo-Gualteros, Sonia, Yunis, Juan José, Jaramillo, Lina, Agudelo, Bertha Inés, Ladino, Yaqueline

“…In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out…”
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The Role of 25-Hydroxyvitamin D as a Predictor of Clinical and Radiological Outcomes in Early Onset Rheumatoid Arthritis by Quintana-Duque, Mario Andrés, Caminos, Jorge Eduardo, Varela-Nariño, Adriana, Calvo-Paramo, Enrique, Yunis, Juan José, Iglesias-Gamarra, Antonio

“…OBJECTIVEThe aims of this study were to compare the levels of 25-hydroxyvitamin D (25(OH)D) in patients with early-onset rheumatoid arthritis (EORA) versus a…”
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Philadelphia‐like acute lymphoblastic leukemia: Characterization in a pediatric cohort in a referral center in Colombia by Linares Ballesteros, Adriana, Yunis, Luz Karime, García, Johnny, Aponte, Nelson, Flechas, Jessica, Martinez, Cindy, Uribe, Gloria, Quintero, Edna, Díaz, Angela, Pardo, Carlos, Sarmiento, Isabel Cristina, Contreras, Agustin, Yunis, Juan Jose

“…Background Philadelphia‐like (Ph‐like) acute lymphoblastic leukemia (ALL) is a subtype of pediatric leukemia with high risk factors and poor outcome. There are…”
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Genotipos frecuentemente asociados a trombofilias by Hernández-Cuervo, Helena, Usme, Solangy, Yunis, Juan José

“…La enfermedad tromboembólica venosa es una entidad patológica importante debido a la morbilidad que causa, por sus complicaciones y por su alta incidencia en…”
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Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia by Serrano, Martha Lucía, Yunis, Juan José

“…Introduction. Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in…”
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Analysis of a Series of Cases of Myeloid Disorders Using a Panel Of 62 Genes by Next Generation Sequence. Diagnostic Performance by Yunis, Juan José, Hazbun, Luz Karime Yunis

“…Introduction: Various types of myeloid disorders require genetic panels for identification of variants to complement Prognosis, Diagnosis or Treatment along…”
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The impact of smoking on disease activity, disability, and radiographic damage in rheumatoid arthritis: is cigarette protective? by Quintana-Duque, Mario Andrés, Rondon-Herrera, Federico, Calvo-Paramo, Enrique, Yunis, Juan Jose, Varela-Nariño, Adriana, Iglesias-Gamarra, Antonio

“…The ojective of this study is to assess the effect of tobacco smoking on disease activity, functional ability, and joint damage in a cohort of patients with…”
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Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: a study in a sample of the Colombian population by Ramírez, Nelson Javier, Belalcázar, Helen Marcela, Yunis, Juan José, Quintero, Luis Napoleón, Arboleda, Gonzalo Humberto, Arboleda, Humberto

“…Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors…”
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Association between early risk factors and CDKN2A/B deletion in pediatric patients with acute lymphoblastic leukemia in a pediatric cancer center in Colombia by Martinez, Cindy, Yunis, Luz Karime, Cabrera, Edgar, García, Johnny, Uribe, Gloria, Quintero, Edna, Yunis, Juan Jose, Linares Ballesteros, Adriana, Sarmiento, Isabel Cristina

“…Cyclin dependent kinase inhibitor (CDKN) 2A/B deletion is correlated with poor risk factors, such as high blood cell count, higher rate of induction therapy…”
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Tetragametic chimera in a patient with sexual ambiguity by Yunis, Juan José, Mogollón-Hellal, Luis Enrique, Cuervo-Pérez, Adriana Guiselle

“…Introduction: Human chimerism is the presence of two (2) or more cell populations in an individual that contain genetic material from more than one zygote…”
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Ancestría genética en tres grupos poblacionales colombianos mediante AIM-Indels. Marcada variabilidad de ancestría en muestras afrodescendientes del Chocó by Pérez-Cárdenas, Jair Arley, Yunis-Hazbun, Luz Karime, Yunis, Juan José

“…Introducción: Colombia es un país multiétnico y pluricultural. Su población está compuesta predominantemente por una mezcla de diversas etnias derivadas de…”
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Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia by Correa-Jimenez, Oscar, Yunis, Juan José, Linares-Ballesteros, Adriana, Sarmiento-Urbina, Isabel

“…This study aimed to correlate the genetic profile of the and genes with the side effects of the treatment of pediatric patients with acute lymphoid leukemia…”
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Quimerismo tetragamético identificado durante un estudio de paternidad de rutina by Mogollón-Hellal, Luis Enrique, Cuervo-Pérez, Adriana Guiselle, Alayon-Galvis, Adiana, Yunis-Hazbun, Luz Karime, Yunis, Juan José, Luna-Berrio, Angie Estefanía

“…Introducción: el quimerismo humano es la presencia de dos (2) o más poblaciones celulares en un individuo que contienen material genético de más de un cigoto…”
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Análisis de FLT3-ITD y FLT3 TKD en 506 pacientes colombianos adultos con LMA de novo entre febrero 2019 - junio 2022 by Yunis-Hazbun, Luz Karime, Diaz-Amaya, Angela Maria, Gavilanes-Salazar, José David, Jaimes-Tellez, Paula Andrea, Yunis, Juan José

“…Introducción: la alteración genética más frecuente en pacientes adultos con LMA de novo es la presencia de mutación FLT3-ITD o FLT3-TKD (D835). Estas variantes…”
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International Accreditation for High Resolution HLA Typing by NGS Sequence for 11 Locis by Dakkak-Araujo, Mayorie Antonieta, Yunis, Juan José, Chamorro-Jimenez, Adriana Lucia, Morales, Natalia Arias, Cortes-Hernández, Alexandra, Rodríguez-Matiz, Jhon Henry

“…Introduction: High-resolution HLA typing is required for haplo-identical HLA intrafamilial donors, and for the selection of unrelated donors from international…”
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Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia by Serrano, Martha Lucía, Yunis, Juan José

“…Retinoblastoma is a childhood cancer of the retina originated by altered or null retinoblastoma protein (pRb) expression. Genetic alterations in both RB1…”
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Quimera tetragamética en paciente con ambigüedad sexual by Yunis, Juan José, Mogollón-Hellal, Luis Enrique, Cuervo-Pérez, Giselle Adriana

“…Introducción: el quimerismo humano es la presencia de dos (2) o más poblaciones celulares en un individuo que contienen material genético de más de un cigoto…”
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