The multisystemic functions of FOXD1 in development and disease
Quintero-Ronderos, Paula, Laissue, Paul
Published in Journal of molecular medicine (Berlin, Germany) (01.08.2018)
Published in Journal of molecular medicine (Berlin, Germany) (01.08.2018)
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ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure
Delcour, Clémence, Amazit, Larbi, Patino, Liliana C., Magnin, Françoise, Fagart, Jérôme, Delemer, Brigitte, Young, Jacques, Laissue, Paul, Binart, Nadine, Beau, Isabelle
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
Patiño, Liliana Catherine, Battu, Rajani, Ortega-Recalde, Oscar, Nallathambi, Jeyabalan, Anandula, Venkata Ramana, Renukaradhya, Umashankar, Laissue, Paul
Published in PloS one (15.10.2014)
Published in PloS one (15.10.2014)
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Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations
Fonseca, Dora Janeth, Ph.D, Patiño, Liliana Catherine, M.Sc, Suárez, Yohjana Carolina, M.Sc, de Jesús Rodríguez, Asid, M.Sc, Mateus, Heidi Eliana, M.D., M.Sc, Jiménez, Karen Marcela, M.Sc, Ortega-Recalde, Oscar, M.D., M.Sc, Díaz-Yamal, Ivonne, M.D, Laissue, Paul, M.D., Ph.D
Published in Fertility and sterility (01.07.2015)
Published in Fertility and sterility (01.07.2015)
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Undertreatment Strongly Decreases Prognosis of Breast Cancer in Elderly Women
BOUCHARDY, Christine, RAPITI, Elisabetta, FIORETTA, Gérald, LAISSUE, Paul, NEYROUD-CASPAR, Isabelle, SCHÄFER, Peter, KURTZ, John, SAPPINO, André-Pascal, VLASTOS, Georges
Published in Journal of clinical oncology (01.10.2003)
Published in Journal of clinical oncology (01.10.2003)
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Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia
Ducat, Aurélien, Doridot, Ludivine, Calicchio, Rosamaria, Méhats, Celine, Vilotte, Jean-Luc, Castille, Johann, Barbaux, Sandrine, Couderc, Betty, Jacques, Sébastien, Letourneur, Franck, Buffat, Christophe, Le Grand, Fabien, Laissue, Paul, Miralles, Francisco, Vaiman, Daniel
Published in Scientific reports (13.01.2016)
Published in Scientific reports (13.01.2016)
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Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies
Agudelo, William A, Gil-Quiñones, Sebastian Ramiro, Fonseca, Alejandra, Arenas, Alvaro, Castro, Laura, Sierra-Díaz, Diana Carolina, Patarroyo, Manuel A, Laissue, Paul, Suárez, Carlos F, Cabrera, Rodrigo
Published in International journal of molecular sciences (28.11.2021)
Published in International journal of molecular sciences (28.11.2021)
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Journal Article
FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia
Quintero-Ronderos, Paula, Jiménez, Karen Marcela, Esteban-Pérez, Clara, Ojeda, Diego A, Bello, Sandra, Fonseca, Dora Janeth, Coronel, María Alejandra, Moreno-Ortiz, Harold, Sierra-Díaz, Diana Carolina, Lucena, Elkin, Barbaux, Sandrine, Vaiman, Daniel, Laissue, Paul
Published in Molecular medicine (Cambridge, Mass.) (08.08.2019)
Published in Molecular medicine (Cambridge, Mass.) (08.08.2019)
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Journal Article
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants
Costa, Lorenzo, Bermudez-Guzman, Luis, Benouda, Ikram, Laissue, Paul, Morel, Adrien, Jiménez, Karen Marcela, Fournier, Thierry, Stouvenel, Laurence, Méhats, Céline, Miralles, Francisco, Vaiman, Daniel
Published in iScience (15.03.2024)
Published in iScience (15.03.2024)
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Journal Article
Novel genes and mutations in patients affected by recurrent pregnancy loss
Quintero-Ronderos, Paula, Mercier, Eric, Fukuda, Michiko, González, Ronald, Suárez, Carlos Fernando, Patarroyo, Manuel Alfonso, Vaiman, Daniel, Gris, Jean-Christophe, Laissue, Paul
Published in PloS one (10.10.2017)
Published in PloS one (10.10.2017)
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Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population
Ramírez, Brian, Niño-Orrego, María José, Cárdenas, Daniel, Ariza, Kevin Enrique, Quintero, Karol, Contreras Bravo, Nora Constanza, Tamayo-Agudelo, Caroll, González, María Alejandra, Laissue, Paul, Fonseca Mendoza, Dora Janeth
Published in BMC medical genomics (19.07.2019)
Published in BMC medical genomics (19.07.2019)
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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
Recent advances in the study of genes involved in non-syndromic premature ovarian failure
Laissue, Paul, Vinci, Giovanna, Veitia, Reiner A., Fellous, Marc
Published in Molecular and cellular endocrinology (30.01.2008)
Published in Molecular and cellular endocrinology (30.01.2008)
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THBD sequence variants potentially related to recurrent pregnancy loss
Quintero-Ronderos, Paula, Mercier, Eric, Gris, Jean-Christophe, Esteban-Perez, Clara, Moreno-Ortiz, Harold, Fonseca, Dora Janeth, Lucena, Elkin, Vaiman, Daniel, Laissue, Paul
Published in Reproductive biology and endocrinology (01.12.2017)
Published in Reproductive biology and endocrinology (01.12.2017)
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Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure
Caburet, Sandrine, Zavadakova, Petra, Ben-Neriah, Ziva, Bouhali, Kamal, Dipietromaria, Aurélie, Charon, Céline, Besse, Céline, Laissue, Paul, Chalifa-Caspi, Vered, Christin-Maitre, Sophie, Vaiman, Daniel, Levi, Giovanni, Veitia, Reiner A, Fellous, Marc
Published in PloS one (13.03.2012)
Published in PloS one (13.03.2012)
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Journal Article
Molecular Mechanisms of Trophoblast Dysfunction Mediated by Imbalance between STOX1 Isoforms
Ducat, Aurélien, Couderc, Betty, Bouter, Anthony, Biquard, Louise, Aouache, Rajaa, Passet, Bruno, Doridot, Ludivine, Cohen, Marie-Benoîte, Ribaux, Pascale, Apicella, Clara, Gaillard, Irène, Palfray, Sophia, Chen, Yulian, Vargas, Alexandra, Julé, Amélie, Frelin, Léo, Cocquet, Julie, San Martin, Camino Ruano, Jacques, Sébastien, Busato, Florence, Tost, Jorg, Méhats, Céline, Laissue, Paul, Vilotte, Jean-Luc, Miralles, Francisco, Vaiman, Daniel
Published in iScience (22.05.2020)
Published in iScience (22.05.2020)
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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
A first description of the Colombian national registry for rare diseases
Mateus, Heidi Eliana, Pérez, Ana María, Mesa, Martha Lucía, Escobar, Germán, Gálvez, Jubby Marcela, Montaño, José Ivo, Ospina, Martha Lucía, Laissue, Paul
Published in BMC research notes (26.10.2017)
Published in BMC research notes (26.10.2017)
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