Blar i forfatter "Tranebjærg, Lisbeth"

Viser treff 1-2 av 2

    • Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome 

      Moldenæs, Marika F.; Rendtorff, Nanna D.; Hindbæk, Lone S.; Tørring, Pernille M.; Nilssen, Øivind; Tranebjærg, Lisbeth (Journal article; Tidsskriftartikkel; Peer reviewed; Master thesis; Mastergradsoppgave, 2021-06-22)
      The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of the six causal genes for Waardenburg syndrome, which is a dominantly inherited auditory-pigmentary disorder characterized by sensorineural hearing impairment ...

    • Usher syndrome in Denmark: mutation Spectrum and some clinical observations 

      Dad, Sheena; Dahl Rendtorff, Nanna; Tranebjærg, Lisbeth; Grønskov, Karen; Gasdal Karstensen, Helena; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Francoise; Rosenberg, Thomas; Jensen, Hanne; Birk Møller, Lisbeth (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-12)
      Background:<br> Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.<br> Methods:<br> Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.<br> Results:<br> Before Next Generation Sequencing (NGS) became available ...