Now showing items 1-20 of 24

    • 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
      "Objective: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not ...
       Artículo. 2017
    • A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics 

      Prada, Carlos Fernando; Laissue, Paul
      "Chromosomal evolution involves multiple changes at structural and numerical levels. These changes, which are related to the variation of the gene number and their location, can be tracked by the identification of syntenic ...
       Artículo. 2014
    • A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency 

      Carlosama, Carolina; Elzaiat, Maëva; Patiño, Liliana C; Mateus, Heidi E; Veitia, Reiner A; Laissue, Paul
      "Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, ...
       Artículo. 2017
    • A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations 

      Ortega-Recalde, Oscar; Fonseca-Mendoza, Dora Janeth; Patiño, Liliana Catherine; Atuesta, Juan Jaime; Rivera-Nieto, Carolina; Restrepo, Carlos M.; Mateus, Heidi Eliana; van der Knaap, Marjo S.; Laissue, Paul
      "NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T ...
       Artículo. 2013
    • A potential functional association between mutant BMPR2 and primary ovarian insufficiency 

      Patiño, Liliana Catherine; Silgado, Daniel; Laissue, Paul
      "Primary ovarian insufficiency (POI) affects ~1% of women in the general population. Despite numerous attempts at identifying POI genetic aetiology, coding mutations in only a few genes have been functionally related to ...
       Artículo. 2017
    • Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing 

      Laissue, Paul
      Premature ovarian failure (POF) is a frequent pathology affecting 1-1.5% of women under 40 years old. Despite advances in diagnosing and treating human infertility, POF is still classified as being idiopathic in 50-80% of ...
       Artículo. 2015
    • 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 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure 

      Fonseca-Mendoza, Dora Janeth; Ortega-Recalde, Oscar; Esteban-Perez, Clara; Moreno-Ortiz, Harold; Patiño, Liliana Catherine; Bermúdez, Olga María; Ortiz, Angela María; Restrepo, Carlos M.; Lucena, Elkin; Laissue, Paul
      "BMP15 has drawn particular attention in the pathophysiology of reproduction, as its mutations in mammalian species have been related to different reproductive phenotypes. In humans, BMP15 coding regions have been sequenced ...
       Artículo. 2014
    • CITED2 mutations potentially cause idiopathic premature ovarian failure 

      Fonseca-Mendoza, Dora Janeth; Ojeda, Diego; Lakhal, Besma; Braham, Rim; Eggers, Stefanie; Turbitt, Erin; White, Stefan; Grover, Sonia; Warne, Garry; Zacharin, Margaret; Lam, Alexandra Nevin; Landolsi, Hanène; Elghezal, Hatem; Saâd, Ali; Restrepo, Carlos M.; Fellous, Marc; Sinclair, Andrew; Koopman, Peter; Laissue, Paul
      "Anomalies in gonadal development in a mouse knockout model of Cited2 have been recently described. In Cited2 -/- female gonads, an ectopic cell migration was observed and the female program of sex determination was ...
       Artículo. 2012
    • 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
    • Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA 

      Laissue, Paul; Vaiman, Daniel
      "Purpose of Review: This manuscript aims to review (for the first time) studies describing NGS sequencing of preeclampsia (PE) women’s DNA. Recent Findings: Describing markers for the early detection of PE is an essential ...
       Artículo. 2020
    • "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-Mendoza, Dora Janeth; Coronel, María Alejandra; Moreno-Ortiz, Harold; Sierra-Díaz, Diana Carolina; Lucena, Elkin; Barbaux, Sandrine; Vaiman, Daniel; Laissue, Paul
      "Background: Human reproductive disorders consist of frequently occurring dysfunctions including a broad range of phenotypes affecting fertility and women's health during pregnancy. Several female-related diseases have ...
       Artículo. 2019
    • 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 and functional characterization of GAA mutations in Colombian patients affected by pompe disease 

      Niño, Mónica Yasmín; Mateus, Heidi Eliana; Fonseca-Mendoza, Dora Janeth; Kroos, Marian A.; Ospina, Sandra Yaneth; Mejía, Juan Fernando; Uribe, Jesús Alfredo; Reuser, Arnold J. J.; Laissue, Paul
      "Pompe disease (PD) is a recessive metabolic disorder characterized by acid ?-glucosidase (GAA) deficiency, which results in lysosomal accumulation of glycogen in all tissues, especially in skeletal muscles. PD clinical ...
       parte de Libro. 2013
    • New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing 

      Patiño, Liliana Catherine; Beau, Isabelle; Carlosama, Carolina; Buitrago, July Constanza; González, Ronald; Suarez Martinez, Carlos Fernando; Patarroyo, Manuel A.; Delemer, Brigitte; Young, Jacques; Binart, Nadine; Laissue, Paul
      "STUDY QUESTION Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER WES is an efficient tool to study ...
       Artículo. 2017
    • Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations 

      Fonseca-Mendoza, Dora Janeth; Patiño, Liliana Catherine; Suárez, Yohjana Carolina; de Jesús Rodríguez, Asid; Mateus, Heidi Eliana; Jiménez, Karen Marcela; Ortega-Recalde, Oscar; Díaz-Yamal, Ivonne; Laissue, Paul
      "Objective To identify new molecular actors involved in nonsyndromic premature ovarian failure (POF) etiology. Design This is a retrospective case-control cohort study. Setting University research group and IVF medical ...
       Artículo. 2015
    • Novel genes and mutations in patients affected by recurrent pregnancy loss 

      Quintero-Ronderos, Paula; Mercier, Eric; Fukuda, Michiko; González, Ronald; Suarez Martinez, 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
    • 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
    • Screening for mutations of the FOXO4 gene in premature ovarian failure patients 

      Fonseca-Mendoza, Dora Janeth; Garzón, Eliana; Lakhal, Besma; Braham, Rim; Ojeda, Diego; Elghezal, Hatem; Saâd, Ali; Restrepo, Carlos M.; Laissue, Paul
      "FOXO4 constitutes a coherent candidate gene associated with premature ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 ...
       Artículo. 2012
    • Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder 

      Castro, Taryn; Mateus, Heidi Eliana; Fonseca-Mendoza, Dora Janeth; Forero, Diego; Restrepo, Carlos M.; Talero-Gutiérrez, Claudia; Velez-van-Meerbeke, Alberto; Laissue, Paul
      "Attention deficit hyperactivity disorder (ADHD) is a common neurobehavioral pathology characterized by distinct degrees of inattention, hyperactivity and impulsivity. Although ADHD etiology remains elusive, the ADRA2A ...
       Artículo. 2013