Consejo genético


Consejo Genético / Secuenciación genómica de última generación

  • Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. Journal of Medical Genetics. 2013
  • Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomasand melanomas. Head Neck. 2012
  • Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations. American Journal of Medical Genetics A. 2011
  • Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. American Journal of Human Genetics. 2011
  • Hereditary hearing loss: genetic counselling. Acta Otorrinolaringológica Española. 2011
  • Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. European Journal of Human Genetics. 2011
  • Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma. Head Neck. 2011
  • Membrane-bound serine protease matriptase-2 is an essential regulator of iron homeostasis”. Blood. 2008