Research Output per year
Research Output 2003 2019
2018
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients
Calderon Ospina, C. A., Fonseca Mendoza, D. J., Gálvez, J. M., Restrepo Fernandez, C. M., Contreras Bravo, N. C., Alvarado, C., Peña, N., Duarte, D., Laissue Hormaza, P. & Cifuentes, R. A., Oct 15 2018, In : Pharmacogenomics and Personalized Medicine. 2018, 11, p. 169-178 10 p., 11.Research output: Contribution to journal › Article
Open Access
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity
van Setten, J., Brody, J. A., Jamshidi, Y., Swenson, B. R., Butler, A. M., Campbell, H., Del Greco, F. M., Evans, D. S., Gibson, Q., Gudbjartsson, D. F., Kerr, K. F., Krijthe, B. P., Lyytikäinen, L-P., Müller, C., Müller-Nurasyid, M., Nolte, I. M., Padmanabhan, S., Ritchie, M. D., Robino, A., Smith, A. V. & 106 others, , Jul 25 2018, In : Nature Communications. 9, 1, p. 2904Research output: Contribution to journal › Article
Toxicidad neurológica asociada a la fenitoína en un paciente metabolizador intermedio para la enzima CYP2C19: Neurological toxicity associated with phenytoin in an intermediate metabolizer patient for CYP2C9 enzyme
Calderon Ospina, C. A., Dominguez Dominguez, C. A. & Aristizabal Gutierrez, F. A., 2018, In : Pharmaceutical Care Espana. 20, 3, p. 228 235 p., 3.Research output: Contribution to journal › Article
Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions.
Payan Gomez, C. E., rubio, D. V., Jimenez, K., Fonseca, D. J. & Laissue Hormaza, P., Mar 8 2018, In : Experimental Dermatology. p. 1-6 6 p., 1.Research output: Contribution to journal › Article
Fucosidosis
Keratinocytes
Skin
Genes
Angiokeratoma
2017
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency
Carlosama, C., El Zaiat, M., Patiño, L. C., Mateus, H. E., Veitia, R. A. & Laissue, P., Aug 15 2017, In : Human Molecular Genetics. 26, 16Research output: Contribution to journal › Article
Open Access
Primary Ovarian Insufficiency
RNA Splice Sites
Mutation
Genes
Exons
Rare DNA variants in the brain-derived neurotrophic factor gene increase risk for attention-deficit hyperactivity disorder: A next-generation sequencing study
Hawi, Z., Cummins, T. D. R., Tong, J., Arcos-Burgos, M., Zhao, Q., Matthews, N., Newman, D. P., Johnson, B., Vance, A., Heussler, H. S., Levy, F., Easteal, S., Wray, N. R., Kenny, E., Morris, D., Kent, L., Gill, M. & Bellgrove, M. A., 2017, In : Molecular Psychiatry. 22, 4, p. 580-584 5 p.Research output: Contribution to journal › Article
Brain-Derived Neurotrophic Factor
Attention Deficit Disorder with Hyperactivity
DNA
Genes
Genome-Wide Association Study
The PHF21B gene is associated with major depression and modulates the stress response
Wong, M-L., Arcos-Burgos, M., Liu, S., Vélez, J. I., Yu, C., Baune, B. T., Jawahar, M. C., Arolt, V., Dannlowski, U., Chuah, A., Huttley, G. A., Fogarty, R., Lewis, M. D., Bornstein, S. R. & Licinio, J., 2017, In : Molecular Psychiatry. 22, 7, p. 1015-1025 11 p.Research output: Contribution to journal › Article
Major Depressive Disorder
Depression
Genes
Genome
Acculturation
2016
10
Citations
(Scopus)
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease
Velez, J. I., Rivera, D., Mastronardi, C. A., Patel, H. R., Tobon, C., Villegas, A., Cai, Y. P., Easteal, S., Lopera, F. & Arcos-Burgos, M., 2016, In : Neural Plasticity.Research output: Contribution to journal › Article
Age of Onset
Alzheimer Disease
Mutation
Modifier Genes
Genes
An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility
Martinez, A. F., Abe, Y., Hong, S., Molyneux, K., Yarnell, D., Löhr, H., Driever, W., Acosta, M. T., Arcos-Burgos, M. & Muenke, M., Dec 15 2016, In : Biological Psychiatry. 80, 12, p. 943-954 12 p.Research output: Contribution to journal › Article
Attention Deficit Disorder with Hyperactivity
Brain
Green Fluorescent Proteins
YY1 Transcription Factor
Zebrafish Proteins
Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans
Laissue Hormaza, P., Lakhal, B., Vatin, M., Batista, F., Burgio, G., Mercier, E., Dos Santos, E., Buffat, C., Sierra Diaz, D. C., Renault, G., Montagutelli, X., Salmon, J. E., Monget, P., Veitia, R. A., Méhats, C., Fellous, M., Gris, J. C. & Vaiman, D., Oct 19 2016, In : Open Biology. 6, 10, p. 1 - 13 13 p.Research output: Contribution to journal › Article
Open Access
Distinctive adaptive response to repeated exposure to hydrogen peroxide associated with upregulation of DNA repair genes and cell cycle arrest
Santa-Gonzalez, G. A., Gomez-Molina, A., Arcos-Burgos, M., Meyer, J. N. & Camargo, M., 2016, In : Redox Biology. 9, p. 124-133 10 p.Research output: Contribution to journal › Article
Cell Cycle Checkpoints
DNA Repair
Hydrogen Peroxide
Repair
Oxidative stress
Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia
Ducat, A., Doridot, L., Calicchio, R., Méhats, C., Vilotte, J. L., Castille, J., Barbaux, S., Couderc, B., Jacques, S., Letourneur, F., Buffat, C., Le Grand, F., Laissue, P., Miralles, F. & Vaiman, D., Jan 13 2016, In : Scientific Reports.Research output: Contribution to journal › Article
Cardiomegaly
Pre-Eclampsia
Endothelial Cells
Gene Regulatory Networks
Endothelium
Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate
Mastronardi, C. A., Pillai, E., Pineda, D. A., Martinez, A. F., Lopera, F., Velez, J. I., Palacio, J. D., Patel, H., Easteal, S., Acosta, M. T., Castellanos, F. X., Muenke, M. & Arcos-Burgos, M., 2016, In : Molecular Psychiatry. 21, 10, p. 1434-1440 7 p.Research output: Contribution to journal › Article
Endophenotypes
Attention Deficit Disorder with Hyperactivity
Pedigree
Neurobiology
Fibroblast Growth Factor 1
Quantification of cell-free DNA for evaluating genotoxic damage from occupational exposure to car paints
Villalba-Campos, M., Ramírez-Clavijo, S. R., Sánchez-Corredor, M. C., Rondón-Lagos, M., Ibáñez-Pinilla, M., Palma, R. M., Varona-Uribe, M. E. & Chuaire-Noack, L., Jul 15 2016, In : Journal of Occupational Medicine and Toxicology. 11, 33Research output: Contribution to journal › Article
Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale
Das, D., Vélez, J. I., Acosta, M. T., Muenke, M., Arcos-Burgos, M. & Easteal, S., Dec 2016, In : ADHD Attention Deficit and Hyperactivity Disorders. 8, 4, p. 215-223 9 p.Research output: Contribution to journal › Article
ROC Curve
Self Report
Surveys and Questionnaires
2015
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis
Ortega-Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca, D. J., Rojas, R. F., Mosquera, H., Medina, C. L., Restrepo, C. M. & Laissue, P., Oct 1 2015, In : Clinical and Experimental Dermatology. p. 757-760 4 p.Research output: Contribution to journal › Article
Ichthyosis
Mutation
Lamellar Ichthyosis
Congenital Ichthyosiform Erythroderma
RNA Splice Sites
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability
Ortega-Recalde, O., Beltrán, O. I., Gálvez, J. M., Palma-Montero, A., Restrepo, C. M., Mateus, H. E. & Laissue, P., Oct 1 2015, In : Clinical Genetics. p. e1-e3Research output: Contribution to journal › Article
Exome
Genetic Association Studies
Intellectual Disability
Mutation
Genes
Lack of association of polymorphisms in six candidate genes in colombian adhd patients
Talero Gutierrez, C., Fonseca Mendoza, D. J., Mateus, H. E., Gálvez, J. M., Forero, D. & Velez Van Meerbeke, A. F., Oct 16 2015, In : Annals of Neurosciences. 22, 4, p. 217-221 4 p.Research output: Contribution to journal › Article
Attention Deficit Disorder with Hyperactivity
Genes
Endophenotypes
Latin America
Sample Size
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations
Fonseca, D. J., Patiño, L. C., Suárez, Y. C., De Jesús Rodríguez, A., Mateus, H. E., Jiménez, K. M., Ortega-Recalde, O., Díaz-Yamal, I. & Laissue, P., Jul 1 2015, In : Fertility and Sterility. p. 154-162.e2 137 p.Research output: Contribution to journal › Article
Primary Ovarian Insufficiency
Mutation
Genes
Computational Biology
Menopause
2014
A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics
Prada, C. F. & Laissue, P., Jan 1 2014, In : Mammalian Genome. p. 618-635 18 p.Research output: Contribution to journal › Article
Mammalian Chromosomes
Chromosomes, Human, X
X Chromosome
Genomics
Chromosome Fragile Sites
BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure
Fonseca, D. J., Ortega-Recalde, O., Esteban-Perez, C., Moreno-Ortiz, H., Patiño, L. C., Bermúdez, O. M., Ortiz, A. M., Restrepo, C. M., Lucena, E. & Laissue, P., 2014, In : Reproductive BioMedicine Online. 29, 5, p. 627 - 633 6 p.Research output: Contribution to journal › Article
Open Access
Primary Ovarian Insufficiency
Transcriptional Activation
Transcription Factors
Binding Sites
Phenotype
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
Patiño, L. C., Battu, R., Ortega-Recalde, O., Nallathambi, J., Anandula, V. R., Renukaradhya, U. & Laissue, P., Oct 15 2014, In : PLoS One.Research output: Contribution to journal › Article
Ceroid
Neuronal Ceroid-Lipofuscinoses
Exome
neurodegenerative diseases
mutation
Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss
Vatin, M., Bouvier, S., Bellazi, L., Montagutelli, X., Laissue, P., Ziyyat, A., Serres, C., De Mazancourt, P., Dieudonné, M. N., Mornet, E., Vaiman, D. & Gris, J. C., Feb 1 2014, In : American Journal of Pathology. p. 362-368 7 p.Research output: Contribution to journal › Article
Fertilization in Vitro
Spontaneous Abortion
Habitual Abortion
Pregnancy
Gene Frequency
2013
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Ortega-Recalde, O., Fonseca, D. J., Patiño, L. C., Atuesta, J. J., Rivera-Nieto, C., Restrepo, C. M., Mateus, H. E., van der Knaap, M. S. & Laissue, P., Nov 1 2013, In : Mitochondrion. p. 749-754 6 p.Research output: Contribution to journal › Article
Mitochondrial Diseases
Mutation
Nonsense Codon
Missense Mutation
Computational Biology
Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder
Castro, T., Mateus, H. E., Fonseca, D. J., Forero, D., Restrepo, C. M., Talero, C., Vélez, A. & Laissue, P., Dec 1 2013, In : Neurological Sciences. p. 2219-2222 4 p.Research output: Contribution to journal › Article
Attention Deficit Disorder with Hyperactivity
Sequence Analysis
Genes
Impulsive Behavior
5' Untranslated Regions
Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology
Ortega-Recalde, O., Vergara, J. I., Fonseca, D. J., Ríos, X., Mosquera, H., Bermúdez, O. M., Medina, C. L., Vargas, C. I., Pallares, A. E., Restrepo, C. M. & Laissue, P., Jun 3 2013, In : PLoS One.Research output: Contribution to journal › Article
Exome
Xeroderma Pigmentosum
etiology
Skin
Genes
2012
CITED2 mutations potentially cause idiopathic premature ovarian failure
Fonseca, D. J., Ojeda, D., Lakhal, B., Braham, R., Eggers, S., Turbitt, E., White, S., Grover, S., Warne, G., Zacharin, M., Nevin Lam, A., Landolsi, H., Elghezal, H., Saâd, A., Restrepo, C. M., Fellous, M., Sinclair, A., Koopman, P. & Laissue, P., Nov 1 2012, In : Translational Research. p. 384-388 5 p.Research output: Contribution to journal › Article
Primary Ovarian Insufficiency
Genes
Mutation
Gonads
Knockout Mice
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure
Caburet, S., Zavadakova, P., Ben-Neriah, Z., Bouhali, K., Dipietromaria, A., Charon, C., Besse, C., Laissue, P., Chalifa-Caspi, V., Christin-Maitre, S., Vaiman, D., Levi, G., Veitia, R. A. & Fellous, M., Mar 13 2012, In : PLoS One.Research output: Contribution to journal › Article
Primary Ovarian Insufficiency
Chromosomes, Human, Pair 7
Pedigree
Chromosomes
homozygosity
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, C. P., Parry, D. A., Logan, C. V., Laissue, P., Rivera, C., Restrepo, C. M., Fonseca, D. J., Morgan, J. E., Allanore, Y., Fontenay, M., Wipff, J., Varret, M., Gibault, L., Dalantaeva, N., Korbonits, M., Zhou, B., Yuan, G., Harifi, G., Cefle, K., Palanduz, S. & 14 others, , Aug 1 2012, In : Human Mutation. p. 1175-1181 7 p.Research output: Contribution to journal › Article
Primary Hypertrophic Osteoarthropathy
Primary Myelofibrosis
Prostaglandins
Hydroxyprostaglandin Dehydrogenases
Mutation
Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death
Vatin, M., Burgio, G., Renault, G., Laissue, P., Firlej, V., Mondon, F., Montagutelli, X., Vaiman, D., Serres, C. & Ziyyat, A., Aug 16 2012, In : PLoS One.Research output: Contribution to journal › Article
Chromosomes, Human, Pair 1
Quantitative Trait Loci
embryonic mortality
Chromosomes
quantitative trait loci
Screening for mutations of the FOXO4 gene in premature ovarian failure patients
Fonseca, D. J., Garzón, E., Lakhal, B., Braham, R., Ojeda, D., Elghezal, H., Saâd, A., Restrepo, C. M. & Laissue, P., Mar 1 2012, In : Reproductive BioMedicine Online. p. 339-341 3 p.Research output: Contribution to journal › Article
Primary Ovarian Insufficiency
Mutation
Open Reading Frames
Genes
Exons
2011
Análisis de microdeleciones en 22q11 en pacientes colombianos con cardiopatía congénita no sindrómica.
Villegas Galvez, V. E., Villalba, G., Mateus Arbelaez, H. E., Fonseca Mendoza, D. J., Núñez, F., Caicedo, V., Pachón, S. & Bernal, J. E., 2011, In : Investigacion Clinica. 52, 4, p. 334-343 9 p.Research output: Contribution to journal › Article
Colombian results of the interlaboratory Quality Control Exercise 2009-2010
Builes Gomez, J. J., Aguirre, D. P., Manrique Rincon, A. J., Puerto Parra, Y. D., Bravo Aguiar, M. L. J., Gaviria Gaviria, A., Gutierrez escobar, A. J., Muñoz, M., Fonseca Mendoza, D. J., Usaquen Fonseca, W., Castillo Pico, A., Pineda, C. R., Ugalde Noritz, N., Cicarelli, R. M. B., Ibarra Rodriguez, A. A., Trejos, D., Hudy Hamoui, L., Bermudez de Castro, M. H., Díaz Sarmiento, L. F., Quiceno Cerinza, D. & 13 others, , Dec 1 2011, In : Forensic Science International: Genetics Supplement Series. 3, 1, p. 57 58 p.Research output: Contribution to journal › Article
Quality Control
Genetic Markers
Dominican Republic
Panama
Ecuador
Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
Ojeda, D., Lakhal, B., Fonseca, D. J., Braham, R., Landolsi, H., Mateus, H. E., Restrepo, C. M., Elghezal, H., Saâd, A. & Laissue, P., Jun 30 2011, In : Fertility and Sterility.Research output: Contribution to journal › Article
Primary Ovarian Insufficiency
Sequence Analysis
Phenotype
Mutation
Genes
2010
Analisis Clinico y Molecular de una paciente con pentasomia del cromosoma X
Research output: Contribution to journal › Article
Open Access
Analisis de marcadores STR sobre el cromosoma X en una poblacion de Bogota
Fonseca Mendoza, D. J., Fuentes, L. M., Sánchez, D. L., Gómez, Y. M., Restrepo, C. M. & Gutiérrez, A., 2010, In : Universitas Médica. 51, p. 284 - 289 5 p.Research output: Contribution to journal › Article
5
Citations
(Scopus)
Beta-galactosidase activity as a marker of senescence in primary cultures of the ovarian surface epithelium | Actividad de la beta-galactosidasa como marcador de senescencia en cultivos primarios del epitelio superficial del ovario
Chuaire-Noack, L., Rondón-Lagos, S., Sánchez-Corredor, M., Ibáñez-Pinilla, M. & Ramírez-Clavijo, S., 2010, In : Investigacion Clinica. 51, 3, p. 351-367 17 p.Research output: Contribution to journal › Article
2008
Identificación de deleciones en portadoras de distrofia muscular de Duchenne
Fonseca Mendoza, D. J., Silva Aldana, C. T., Mateus Arbelaez, H. E. & Restrepo Fernández, C. M., 2008, In : Acta Medica Colombiana. 33, 2, p. 63 - 67 4 p.Research output: Contribution to journal › Article
Utilidad de la Citogenética en la medicina actual: Visión histórica y aplicación
Silva, C. T., Contreras, N. C. & Fonseca Mendoza, D. J., Dec 31 2008, In : Acta Medica Colombiana. 33, 4, p. 309 - 316 7 p.Research output: Contribution to journal › Article
2005
Distrofia Muscular de Duchenne y Becker: Una visión molecular
Silva Aldana, C. T., Fonseca Mendoza, D. J., Mateus Arbelaez, H. E., Contreras Bravo, N. C. & Restrepo Fernandez, C. M., Sep 5 2005, In : Acta Medica Colombiana. 30, 3, p. 112 - 11 6 4 p.Research output: Contribution to journal › Article
Open Access
2003
Identificación de portadoras de hemofilia A para asesoramiento genético mediante análisis en el ADN de polimorfismos intragénicos del gen del factor VIII de la coagulación
Fonseca Mendoza, D. J., Bermeo, S. M., Silva Aldana, C. T. & Restrepo Fernandez, C. M., 2003, In : Controversias En Gilecologia Y Obstetricia. 38, 3, p. 1105 - 1110 5 p.Research output: Contribution to journal › Article