Now showing items 1-4 of 4

    • 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
    • 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
    • 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
    • Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology 

      Ortega-Recalde, Oscar-Javier; Ine´s Vergara, Jéssica; Fonseca-Mendoza, Dora Janeth; Ríos, Xiomara; Mosquera, Hernando; Bermúdez, Olga; Medina, Claudia Liliana; Vargas, Clara; Pallares, Argemiro Enrique; Restrepo, Carlos Martín; Laissue, Paul
      Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected ...
       Artículo. 2013

       

      Reconocimientos: