Research Output 2003 2019

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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 journalArticle

Open Access
9 Citations (Scopus)

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, Steri, M., Tanaka, T., Teumer, A., Trompet, S., Ulivi, S., Verweij, N., Yin, X., Arnar, D. O., Asselbergs, F. W., Bader, J. S., Barnard, J., Bis, J., Blankenberg, S., Boerwinkle, E., Bradford, Y., Buckley, B. M., Chung, M. K., Crawford, D., den Hoed, M., Denny, J. C., Dominiczak, A. F., Ehret, G. B., Eijgelsheim, M., Ellinor, P. T., Felix, S. B., Franco, O. H., Franke, L., Harris, T. B., Holm, H., Ilaria, G., Iorio, A., Kähönen, M., Kolcic, I., Kors, J. A., Lakatta, E. G., Launer, L. J., Lin, H., Lin, H. J., Loos, R. J. F., Lubitz, S. A., Macfarlane, P. W., Magnani, J. W., Leach, I. M., Meitinger, T., Mitchell, B. D., Munzel, T., Papanicolaou, G. J., Peters, A., Pfeufer, A., Pramstaller, P. P., Raitakari, O. T., Rotter, J. I., Rudan, I., Samani, N. J., Schlessinger, D., Silva Aldana, C. T., Sinner, M. F., Smith, J. D., Snieder, H., Soliman, E. Z., Spector, T. D., Stott, D. J., Strauch, K., Tarasov, K. V., Thorsteinsdottir, U., Uitterlinden, A. G., Van Wagoner, D. R., Völker, U., Völzke, H., Waldenberger, M., Jan Westra, H., Wild, P. S., Zeller, T., Alonso, A., Avery, C. L., Bandinelli, S., Benjamin, E. J., Cucca, F., Dörr, M., Ferrucci, L., Gasparini, P., Gudnason, V., Hayward, C., Heckbert, S. R., Hicks, A. A., Jukema, J. W., Kääb, S., Lehtimäki, T., Liu, Y., Munroe, P. B., Parsa, A., Polasek, O., Psaty, B. M., Roden, D. M., Schnabel, R. B., Sinagra, G., Stefansson, K., Stricker, B. H., van der Harst, P., van Duijn, C. M., Wilson, J. F., Gharib, S. A., de Bakker, P. I. W., Isaacs, A., Arking, D. E. & Sotoodehnia, N., Jul 25 2018, In : Nature Communications. 9, 1, p. 2904

Research output: Contribution to journalArticle

1 Citation (Scopus)

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 journalArticle

Fucosidosis
Keratinocytes
Skin
Genes
Angiokeratoma
2017
11 Citations (Scopus)

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, 16

Research output: Contribution to journalArticle

Open Access
Primary Ovarian Insufficiency
RNA Splice Sites
Mutation
Genes
Exons
7 Citations (Scopus)

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 journalArticle

Brain-Derived Neurotrophic Factor
Attention Deficit Disorder with Hyperactivity
DNA
Genes
Genome-Wide Association Study
23 Citations (Scopus)

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 journalArticle

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 journalArticle

Age of Onset
Alzheimer Disease
Mutation
Modifier Genes
Genes
20 Citations (Scopus)

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 journalArticle

Attention Deficit Disorder with Hyperactivity
Brain
Green Fluorescent Proteins
YY1 Transcription Factor
Zebrafish Proteins
7 Citations (Scopus)

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 journalArticle

Open Access
16 Citations (Scopus)

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 journalArticle

Cell Cycle Checkpoints
DNA Repair
Hydrogen Peroxide
Repair
Oxidative stress
18 Citations (Scopus)

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 journalArticle

Cardiomegaly
Pre-Eclampsia
Endothelial Cells
Gene Regulatory Networks
Endothelium
5 Citations (Scopus)

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 journalArticle

Endophenotypes
Attention Deficit Disorder with Hyperactivity
Pedigree
Neurobiology
Fibroblast Growth Factor 1
3 Citations (Scopus)

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, 33

Research output: Contribution to journalArticle

1 Citation (Scopus)

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 journalArticle

ROC Curve
Self Report
Surveys and Questionnaires
2015
4 Citations (Scopus)

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 journalArticle

Ichthyosis
Mutation
Lamellar Ichthyosis
Congenital Ichthyosiform Erythroderma
RNA Splice Sites
13 Citations (Scopus)

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-e3

Research output: Contribution to journalArticle

Exome
Genetic Association Studies
Intellectual Disability
Mutation
Genes
10 Citations (Scopus)

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 journalArticle

Attention Deficit Disorder with Hyperactivity
Genes
Endophenotypes
Latin America
Sample Size
27 Citations (Scopus)

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 journalArticle

Primary Ovarian Insufficiency
Mutation
Genes
Computational Biology
Menopause
2014
4 Citations (Scopus)

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 journalArticle

Mammalian Chromosomes
Chromosomes, Human, X
X Chromosome
Genomics
Chromosome Fragile Sites
12 Citations (Scopus)

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 journalArticle

Open Access
Primary Ovarian Insufficiency
Transcriptional Activation
Transcription Factors
Binding Sites
Phenotype
15 Citations (Scopus)

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 journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Exome
neurodegenerative diseases
mutation
12 Citations (Scopus)

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 journalArticle

Fertilization in Vitro
Spontaneous Abortion
Habitual Abortion
Pregnancy
Gene Frequency
2013
9 Citations (Scopus)

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 journalArticle

Mitochondrial Diseases
Mutation
Nonsense Codon
Missense Mutation
Computational Biology
5 Citations (Scopus)

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 journalArticle

Attention Deficit Disorder with Hyperactivity
Sequence Analysis
Genes
Impulsive Behavior
5' Untranslated Regions
18 Citations (Scopus)

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 journalArticle

Exome
Xeroderma Pigmentosum
etiology
Skin
Genes
2012
9 Citations (Scopus)

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 journalArticle

Primary Ovarian Insufficiency
Genes
Mutation
Gonads
Knockout Mice
22 Citations (Scopus)

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 journalArticle

Primary Ovarian Insufficiency
Chromosomes, Human, Pair 7
Pedigree
Chromosomes
homozygosity
51 Citations (Scopus)

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, Akoglu, H., Zwijnenburg, P. J., Lichtenbelt, K. D., Aubry-Rozier, B., Superti-Furga, A., Dallapiccola, B., Accadia, M., Brancati, F., Sheridan, E. G., Taylor, G. R., Carr, I. M., Johnson, C. A., Markham, A. F. & Bonthron, D. T., Aug 1 2012, In : Human Mutation. p. 1175-1181 7 p.

Research output: Contribution to journalArticle

Primary Hypertrophic Osteoarthropathy
Primary Myelofibrosis
Prostaglandins
Hydroxyprostaglandin Dehydrogenases
Mutation
8 Citations (Scopus)

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 journalArticle

Chromosomes, Human, Pair 1
Quantitative Trait Loci
embryonic mortality
Chromosomes
quantitative trait loci
6 Citations (Scopus)

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 journalArticle

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 journalArticle

3 Citations (Scopus)

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, Pinzón Pinzon, A., Gavilan de la Cruz, J. M., Sánchez Quizhpi, D. L., Roa, M., Ossa Reyes, H., Iannacone de la Flor, G. C., Mendoza Novoa, L., Ruiz, M., Solis Castillero, L. M., Pareja, L., Guevara, A. A., Carracedo Alvarez, A. M. & Gusmão, L., Dec 1 2011, In : Forensic Science International: Genetics Supplement Series. 3, 1, p. 57 58 p.

Research output: Contribution to journalArticle

Quality Control
Genetic Markers
Dominican Republic
Panama
Ecuador
11 Citations (Scopus)

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 journalArticle

Primary Ovarian Insufficiency
Sequence Analysis
Phenotype
Mutation
Genes
2010

Analisis Clinico y Molecular de una paciente con pentasomia del cromosoma X

Translated title of the contribution: Clinical and Molecular Analysis of a patient with X chromosome pentasomyFonseca Mendoza, D. J., Contreras Bravo, N. C., Silva Aldana, C. T. & Mateus Arbelaez, H. E., 2010, In : Acta Biologica Colombiana. 15, p. 61 - 72 11 p.

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle

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 journalArticle