Genetic and Molecular Aspects of Drug-Induced QT Interval Prolongation
Baracaldo-Santamaría, Daniela, Llinás-Caballero, Kevin, Corso-Ramirez, Julián Miguel, Restrepo, Carlos Martín, Dominguez-Dominguez, Camilo Alberto, Fonseca-Mendoza, Dora Janeth, Calderon-Ospina, Carlos Alberto
Published in International journal of molecular sciences (28.07.2021)
Published in International journal of molecular sciences (28.07.2021)
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Journal Article
Uveitis and Multiple Sclerosis: Potential Common Causal Mutations
de-la-Torre, Alejandra, Silva-Aldana, Claudia T., Muñoz-Ortiz, Juliana, Piñeros-Hernández, Laura B., Otero, Oscar, Domínguez, Alejandra, Faciolince, León A., Arcos-Holzinger, Mauricio, Mastronardi, Claudio, Contreras-Bravo, Nora Constanza, Restrepo, Carlos Martín, Arcos-Burgos, Mauricio
Published in Molecular neurobiology (01.12.2019)
Published in Molecular neurobiology (01.12.2019)
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Journal Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, Christine P., Parry, David A., Logan, Clare V., Laissue, Paul, Rivera, Carolina, Restrepo, Carlos Martín, Fonseca, Dora J., Morgan, Joanne E., Allanore, Yannick, Fontenay, Michaela, Wipff, Julien, Varret, Mathilde, Gibault, Laure, Dalantaeva, Nadezhda, Korbonits, Márta, Zhou, Bowen, Yuan, Gang, Harifi, Ghita, Cefle, Kivanc, Palanduz, Sukru, Akoglu, Hadim, Zwijnenburg, Petra J., Lichtenbelt, Klaske D., Aubry-Rozier, Bérengère, Superti-Furga, Andrea, Dallapiccola, Bruno, Accadia, Maria, Brancati, Francesco, Sheridan, Eamonn G., Taylor, Graham R., Carr, Ian M., Johnson, Colin A., Markham, Alexander F., Bonthron, David T.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Journal Article
Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy
Calderon-Ospina, Carlos Alberto, Galvez, Jubby Marcela, López-Cabra, Claudia, Morales, Natalia, Restrepo, Carlos Martín, Rodríguez, Jesús, Aristizábal-Gutiérrez, Fabio Ancízar, Velez-van-Meerbeke, Alberto, Laissue, Paul, Fonseca-Mendoza, Dora Janeth
Published in Frontiers in pharmacology (07.05.2020)
Published in Frontiers in pharmacology (07.05.2020)
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Journal Article
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology
Ortega-Recalde, Oscar, Vergara, Jéssica Inés, Fonseca, Dora Janeth, Ríos, Xiomara, Mosquera, Hernando, Bermúdez, Olga María, Medina, Claudia Liliana, Vargas, Clara Inés, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Laissue, Paul
Published in PloS one (03.06.2013)
Published in PloS one (03.06.2013)
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Journal Article
Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
Ojeda, Diego, M.Sc, Lakhal, Besma, Ph.D, Fonseca, Dora Janneth, M.Sc, Braham, Rim, M.D, Landolsi, Hanène, Ph.D, Mateus, Heidi Eliana, M.D, Restrepo, Carlos Martín, M.D., Ph.D, Elghezal, Hatem, M.D, Saâd, Ali, M.D., Ph.D, Laissue, Paul, M.D., Ph.D
Published in Fertility and sterility (30.06.2011)
Published in Fertility and sterility (30.06.2011)
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Journal Article
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Ortega-Recalde, Oscar, Fonseca, Dora Janeth, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Restrepo, Carlos Martín, Mateus, Heidi Eliana, van der Knaap, Marjo S, Laissue, Paul
Published in Mitochondrion (01.11.2013)
Published in Mitochondrion (01.11.2013)
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Journal Article
Genetics and Genomic Medicine in Colombia
De Castro, Mauricio, Restrepo, Carlos Martín
Published in Molecular genetics & genomic medicine (01.03.2015)
Published in Molecular genetics & genomic medicine (01.03.2015)
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Journal Article
Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples
Jiménez, Karen Marcela, Fonseca-Mendoza, Dora Janeth, Morel, Adrien, Ortega-Recalde, Oscar, Contreras Bravo, Nora Constanza, Velandia-Piedrahita, Camilo Andres, Steevens, Adriana, Caldas, Luisa Daniela, Ribón, Juan Pablo, Sánchez, Martha, Restrepo, Carlos Martin, Cabrera, Rodrigo
Published in Methods and protocols (21.09.2022)
Published in Methods and protocols (21.09.2022)
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Journal Article
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
Velandia-Piedrahita, Camilo Andres, Morel, Adrien, Fonseca-Mendoza, Dora Janeth, Huertas-Quiñones, Victor Manuel, Castillo, David, Bonilla, Juan Diego, Hernandez-Toro, Camilo José, Miranda-Fernández, Marta Catalina, Restrepo, Carlos Martin, Cabrera, Rodrigo
Published in Application of clinical genetics (01.01.2020)
Published in Application of clinical genetics (01.01.2020)
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Journal Article
Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder
Castro, Taryn, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Forero, Diego, Restrepo, Carlos Martín, Talero, Claudia, Vélez, Alberto, Laissue, Paul
Published in Neurological sciences (01.12.2013)
Published in Neurological sciences (01.12.2013)
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Journal Article
CITED2 mutations potentially cause idiopathic premature ovarian failure
Fonseca, Dora Janeth, Ojeda, Diego, Lakhal, Besma, Braham, Rim, Eggers, Stefanie, Turbitt, Erin, White, Stefan, Grover, Sonia, Warne, Garry, Zacharin, Margaret, Nevin Lam, Alexandra, Landolsi, Hanène, Elghezal, Hatem, Saâd, Ali, Restrepo, Carlos Martín, Fellous, Marc, Sinclair, Andrew, Koopman, Peter, Laissue, Paul
Published in Translational research : the journal of laboratory and clinical medicine (01.11.2012)
Published in Translational research : the journal of laboratory and clinical medicine (01.11.2012)
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Journal Article
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients
Galvez, Jubby Marcela, Restrepo, Carlos Martin, Contreras, Nora Constanza, Alvarado, Clara, Calderón-Ospina, Carlos-Alberto, Peña, Nidia, Cifuentes, Ricardo A, Duarte, Daniela, Laissue, Paul, Fonseca, Dora Janeth
Published in Pharmacogenomics and personalized medicine (01.01.2018)
Published in Pharmacogenomics and personalized medicine (01.01.2018)
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Journal Article
Screening for mutations of the FOXO4 gene in premature ovarian failure patients
Fonseca, Dora Janeth, Garzón, Eliana, Lakhal, Besma, Braham, Rim, Ojeda, Diego, Elghezal, Hatem, Saâd, Ali, Restrepo, Carlos Martín, Laissue, Paul
Published in Reproductive biomedicine online (01.03.2012)
Published in Reproductive biomedicine online (01.03.2012)
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Journal Article
Population data on 15 autosomal STRs in a sample from Colombia
Sánchez-Diz, Paula, Acosta, María Amparo, Fonseca, Dora, Fernández, Marcela, Gómez, Yenny, Jay, Manuela, Alape, Joseph, Lareu, María Victoria, Carracedo, Angel, Restrepo, Carlos Martín
Published in Forensic science international : genetics (01.06.2009)
Published in Forensic science international : genetics (01.06.2009)
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Journal Article
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing
Silgado-Guzmán, Daniel Felipe, Angulo-Aguado, Mariana, Morel, Adrien, Niño-Orrego, María José, Ruiz-Torres, Daniel-Armando, Contreras Bravo, Nora Constanza, Restrepo, Carlos Martin, Ortega-Recalde, Oscar, Fonseca-Mendoza, Dora Janeth
Published in Frontiers in pharmacology (30.06.2022)
Published in Frontiers in pharmacology (30.06.2022)
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Journal Article
Correction: Uveitis and Multiple Sclerosis: Potential Common Causal Mutations
de-la-Torre, Alejandra, Silva-Aldana, Claudia T., Muñoz-Ortiz, Juliana, Piñeros-Hernández, Laura B., Otero-Marquez, Oscar, Domínguez, Alejandra, Faciolince, León A., Arcos-Holzinger, Mauricio, Mastronardi, Claudio, Contreras-Bravo, Nora Constanza, Restrepo, Carlos Martín, Arcos-Burgos, Mauricio
Published in Molecular neurobiology (01.05.2023)
Published in Molecular neurobiology (01.05.2023)
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Journal Article
A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin
Fonseca, Dora Janeth, Prada, Carlos Fernando, Siza, Luz Miriam, Angel, Diana, Gomez, Yenny Milena, Restrepo, Carlos Martin, Douben, Hannie, Rivadeneira, Fernando, de Klein, Annelies, Laissue, Paul
Published in American journal of medical genetics. Part A (01.03.2012)
Published in American journal of medical genetics. Part A (01.03.2012)
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Journal Article