Search Results - "Yunis, Juan"

The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant by Yunis, Juan J., Yunis, Luz K.

“…The family reported to have X‐linked Dyggve–Melchior–Clausen syndrome instead has X‐linked SEDT caused by a novel TRAPPC2 frameshift variant…”
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Genomic alterations in a cohort of pediatric acute myeloid leukemia patients at two cancer centers in Colombia by Yunis, Luz K., Linares-Ballesteros, Adriana, Barros, Gisela, Garcia, Johnny, Aponte, Nelson, Niño, Laura, Uribe, Gloria, Quintero, Edna, Perez, Jaime, Martinez, Leila, Yunis, Juan J.

“…Few studies identifying genomic aspects in pediatric acute myeloid leukemia patients in Latin American countries have been reported. The aim of this study was…”
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P593: Genetic ancestry analysis using 46 AIM-InDel in three population groups of Colombia: Amerindian, African-descent and European-admix populations by Yunis, Juan, Yunis, Luz, Perez, Jair

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Systematic molecular analysis of hemophilia A patients from Colombia by Yunis, Luz Karime, Linares, Adriana, Cabrera, Edgar, Yunis, Juan J

“…Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide,…”
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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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Pharmacogenetics of ABCB1, CDA, DCK, GSTT1, GSTM1 and outcomes in a cohort of pediatric acute myeloid leukemia patients from Colombia by Yunis, Luz K., Linares‐Ballesteros, Adriana, Aponte, Nelson, Barros, Gisela, García, Johnny, Niño, Laura, Uribe, Gloria, Quintero, Edna, Yunis, Juan J.

“…Background and Aim Different studies have shown pharmacogenetic variants related to drug toxicity in acute myeloid leukemia (AML) patients. Our aim was to…”
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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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Molecular characterization of hemophilia B patients in Colombia by Parrado Jara, Yolima A., Yunis Hazbun, Luz K., Linares, Adriana, Yunis Londoño, Juan J.

“…Background Hemophilia B (HB) is a coagulation disorder with an X‐linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is…”
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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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Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia by Forero, Diego A., Benítez, Bruno, Arboleda, Gonzalo, Yunis, Juan J., Pardo, Rodrigo, Arboleda, Humberto

“…In recent years, it has been proposed that synaptic dysfunction may be an important etiological factor for Alzheimer's disease (AD). This hypothesis has…”
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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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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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P089: Genetic, pharmacogenetics and outcomes in a cohort of pediatric acute myeloid leukemia patients in two reference centers from Colombia by Yunis, Luz, Linares, Adriana, Barros, Gisela, Garcia, Johnny, Aponte, Nelson, Niño, Laura, Uribe, Gloria, Quintero, Edna, Perez, Jaime, Martinez, Leila, Yunis, Juan

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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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Mitochondrial DNA (mtDNA) haplogroups in 1526 unrelated individuals from 11 Departments of Colombia by Yunis, Juan J, Yunis, Emilio J

“…The frequencies of four mitochondrial Native American DNA haplogroups were determined in 1526 unrelated individuals from 11 Departments of Colombia and…”
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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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Comparison of Two Methods for Isolating DNA from Human Skeletal Remains for STR Analysis by Rucinski, Cynthia, Malaver, Ayda L., Yunis, Emilio J., Yunis, Juan J.

“…:  The quality and efficiency of a standard organic DNA isolation method and a silica‐based method using the QIAGEN Blood Maxi Kit were compared to obtain…”
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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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MHC Class II haplotypes of Colombian Amerindian tribes by Yunis, Juan J, Yunis, Edmond J, Yunis, Emilio

“…We analyzed 1041 individuals belonging to 17 Amerindian tribes of Colombia, Chimila, Bari and Tunebo (Chibcha linguistic family), Embera, Waunana (Choco…”
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Genetic differences between Chibcha and Non-Chibcha speaking tribes based on mitochondrial DNA (mtDNA) haplogroups from 21 Amerindian tribes from Colombia by Usme-Romero, Solangy, Alonso, Milena, Hernandez-Cuervo, Helena, Yunis, Emilio J, Yunis, Juan J

“…We analyzed the frequency of four mitochondrial DNA haplogroups in 424 individuals from 21 Colombian Amerindian tribes. Our results showed a high degree of…”
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