Now showing items 1-2 of 2

    • New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing 

      Patiño, Liliana Catherine; Beau, Isabelle; Buitrago, July Constanza; González, Ronald; Suárez, Carlos Fernando; Patarroyo, Manue Alfonso; Delemer, Brigitte; Young, Jacques; Binart, Nadine; Laissue, Paul (2017)
      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 genetic ...
    • Novel genes and mutations in patients affected by recurrent pregnancy loss 

      Quintero Ronderos, Paula; Mercier, Eric; González, Ronald; Suárez, Carlos Fernando; Patarroyo, Manuel Alfonso; Vaiman, Daniel; Gris, Jean-Christophe; Laissue, Paul (2017)
      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 factors ...