Now showing items 1-20 of 22

    • A pharmacogenomic dissection of a Rosuvastatin-induced rhabdomyolysis case evokes the polygenic nature of adverse drug reactions 

      Calderon-Ospina, Carlos Alberto; Hernández-Sómerson, Mario; García, Ana María; Mejia, Adriana; Tamayo-Agudelo, Caroll; Laissue, Paul; Fonseca Mendoza, Dora Janeth
      "Rosuvastatin, is a widely-used statin for the treatment of hypercholesterolemia and the prevention of cardiovascular diseases. Although rosuvastatin is well tolerated, about 3/10.000 patients can suffer severe myopathy. ...
       Artículo. 2020
    • Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans 

      Laissue, Paul; Lakha, Besma; Vatin, Magalie; Batista, Frank; Burgio, Gaetan; Mercier, Eric; Dos Santos, Esther; Buffat, Christophe; Sierra Diaz, Diana Carolina; Renault, Gilles; Montagutelli, Xavier; Salmon, Jane; Monget, Philippe; Veitia, Reiner; Meháts, Céline; Fellous, Marc; Gris, Jean-Christophe; Cocquet, Julie; Vaiman, Daniel
      Recurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be ...
       Artículo. 2016
    • "BMP15 mutations associated with primary ovarian insufficiency reduce expression, activity, or synergy with gdf9" 

      Patiño, Liliana C.; Walton, Kelly L.; Mueller, Thomas D.; Johnson, Katharine E.; Stocker, William; Richani, Dulama; Agapiou, David; Gilchrist, Robert B.; Laissue, Paul; Harrison, Craig A.
      "Context: Bone morphogenetic protein (BMP)15 is an oocyte-specific growth factor, which, together with growth differentiation factor (GDF) 9, regulates folliculogenesis and ovulation rate. Multiple mutations in BMP15 have ...
       Artículo. 2017
    • BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency 

      Renault, Lucie; Patiño, Liliana C; Magnin, Françoise; Delemer, Brigitte; Young, Jacques; Laissue, Paul; Binart, Nadine; Beau, Isabelle
      "CONTEXT: Primary ovarian insufficiency (POI) is a frequently occurring disorder affecting approximately 1% of women under 40 years of age. POI, which is characterized by the premature depletion of ovarian follicles and ...
       Artículo. 2020
    • 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
      "Background: Copy Number variation (CNVs) in genes related to drug absorption, distribution, metabolism and excretion (ADME) are relevant in the interindividual variability of drug response. Studies of the CNVs in ADME ...
       Artículo. 2019
    • 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
      "Purpose: Warfarin is an oral anticoagulant associated with adverse reaction to drugs due to wide inter-and intra-individual dosage variability. Warfarin dosage has been related to non-genetic and genetic factors. CYP2C9 ...
       Artículo. 2018
    • Current needs for human and medical genomics research infrastructure in low and middle income countries 

      Forero, Diego A; Wonkam, Ambroise; Wang, Wei; Laissue, Paul; López-Correa, Catalina; Fernández-López, Juan C; Mugasimangalam, Raja; Perry, George
      Genomics has facilitated the identification of a large number of genetic variants that are causal and/or risk factors for both rare and common human diseases. Low and middle income countries (LMIC) represent a large ...
       Artículo. 2016
    • 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
      "Preeclampsia is a disease of pregnancy involving systemic endothelial dysfunction. However, cardiovascular consequences of preeclampsia are difficult to analyze in humans. The objective of the present study is to evaluate ...
       Artículo. 2016
    • 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
      The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. ...
       Artículo. 2014
    • 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; Fellous, Marc
      Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10–15% are familial, suggesting a genetic ...
       Artículo. 2012
    • Identification of a new candidate locus for ebstein anomaly in 1p36.2 

      Miranda-Fernández, Marta-Catalina; Ramírez-Oyaga, Silvia; Restrepo, Carlos M; Huertas-Quiñones, Victor-Manuel; Barrera-Castañeda, Magally; Quero, Rossi; Hernández-Toro, Camilo-José; Tamar Silva, Claudia; Laissue, Paul; Cabrera, Rodrigo
      "Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and ...
       Artículo. 2018
    • Identification of genetic variants and chromosomal abnormalities associated with Ebstein anomaly 

      Cabrera, Rodrigo; Miranda, Marta Catalina; Restrepo, Carlos Martin; Huertas-quiñones, Victor Manuel; Laissue, Paul; Tamar Silva, Claudia; Tomás Hernández, Camilo José; Quero, Rossi; Ortiz, Angela María; Programa Pinocchio
      Background/Hypothesis: Ebstein Anomaly (EA) is an infrequent congenital heart defect (CHD) with considerable phenotypic heterogeneity in which right ventricle, tricuspid valve and electrical abnormalities prevail. Phenotypic ...
       Documento de conferencia. 2017
    • Interspecific resources: A major tool for quantitative trait locus cloning and speciation research 

      L'Hôte, David; Laissue, Paul; Serres, Catherine; Montagutelli, Xavier; Veitia, Reiner A.; Vaiman, Daniel
      "Positional cloning of the quantitative trait locus (QTL) still encounters numerous difficulties, which explains why thousands of QTL have been mapped, while only a few have been identified at the molecular level. Here, ...
       Artículo. 2010
    • MON-235 Bone Morphogenic Protein Receptor Variants: A New Cause of Primary Ovarian Insufficiency 

      Beau, Isabelle; Renault, Lucie; Clémence, Delcour; Patino, Liliana; Delemer, Brigitte; Laissue, Paul; Young, Jacques; Binart, Nadine
      "La insuficiencia ovárica primaria (POI) es una causa importante de infertilidad. Esta enfermedad se caracteriza por amenorrea con un aumento en los niveles de gonadotropina y afecta al 1% de las mujeres antes de los 40 ...
       Documento de conferencia. 2019
    • Novel genes and mutations in patients affected by recurrent pregnancy loss 

      Quintero-Ronderos, Paula; Mercier, Eric; Fukuda, Michiko; González, Ronald; Suárez, Carlos Fernando; Alfonso Patarroyo, Manuel; Vaiman, Daniel; Gris, Jean-Christophe; Laissue, Paul
      Recurrent pregnancy loss is a frequently occurring human infertility-related disease affecting ~1% of women. It has been estimated that the cause remains unexplained in >50% cases which strongly suggests that genetic ...
       Artículo. 2017
    • Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss 

      Vatin, Magalie; Bouvier, Sylvie; Bellazi, Linda; Montagutelli, Xavier; Laissue, Paul; Ziyyat, Ahmed; Serres, Catherine; De Mazancourt, Philippe; Dieudonné, Marie-Noelle; Mornet, Etienne; Vaiman, Daniel; Gris, Jean-Christophe
      "Fertility is a quantitative, complex character governed by a considerable number of genes. Despite clinical and scientific advances, several cases of human infertility remain unexplained. In the present study, using a ...
       Artículo. 2014
    • Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy. 

      Calderon-Ospina, Carlos Alberto; Galvez, Jubby Marcela; Lopez-Cabra, Claudia; Morales, Natalia; Restrepo, Carlos Martin; Rodriguez, Jesus; Aristizabal-Gutierrez, Fabio Ancizar; Velez-van-Meerbeke, Alberto; Laissue, Paul; Fonseca-Mendoza, Dora Janeth
      Background: Epilepsy is a serious health problem worldwide. Despite the introduction of new antiepileptic drugs (AEDs) almost 30% of these patients have drug-resistant forms of the disease (DRE), with a significant increase ...
       Artículo. 2020
    • Pregnancy failure and alkaline phosphatases: from mouse genetics to human disease. 

      Vatin, Magalie; Bouvier, Sylvie; Bellazzi, Linda; Laissue, Paul; Burgio, Gaetan
      In mammals, fertility is governed by a considerable number of genes, as materialized by the decreased or impaired fertility of ~20% of knock-out mice. We wished to study fertility parameters as quantitative genetic characters ...
       Artículo. 2012
    • 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.
      "Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory ...
       Artículo. 2012
    • Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death 

      Vatin, Magalie; Burgio, Gaetan; Renault, Gilles; Laissue, Paul; Firlej, Virginie; Mondon, Françoise; Montagutelli, Xavier; Vaiman, Daniel; Serres, Catherine; Ziyyat, Ahmed
      Recurrent spontaneous abortion (RSA) is defined as the loss of three or more consecutive pregnancies during the first trimester of embryonic intrauterine development. This kind of human infertility is frequent among the ...
       Artículo. 2012