Madeleine Fannemel

Summary

Publications

  1. doi request reprint Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
    Madeleine Fannemel
    Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway Electronic address
    Eur J Med Genet 57:513-9. 2014
  2. pmc Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
    Tuva Barøy
    Department of Medical Genetics, University of Oslo, P, O, Box 1036, Blindern, Oslo N 0315, Norway
    Orphanet J Rare Dis 8:3. 2013
  3. doi request reprint Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
    Johan Robert Helle
    Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway
    Am J Med Genet A 161:1137-42. 2013

Collaborators

  • Johan Robert Helle
  • Tuva Barøy
  • Eirik Frengen
  • Doriana Misceo
  • Olaug Kristin Rødningen
  • Asbjørn Holmgren
  • Alice Stormyr
  • Bjørn Tvedt
  • Petter Strømme
  • Asbjørg Stray-Pedersen
  • Øivind Braaten
  • Anne Blomhoff

Detail Information

Publications3

  1. doi request reprint Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
    Madeleine Fannemel
    Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway Electronic address
    Eur J Med Genet 57:513-9. 2014
    ..We suggest that haploinsufficiency of one or both of these genes is likely to be responsible for the disease in our patient. ..
  2. pmc Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
    Tuva Barøy
    Department of Medical Genetics, University of Oslo, P, O, Box 1036, Blindern, Oslo N 0315, Norway
    Orphanet J Rare Dis 8:3. 2013
    ..Heterogeneous deletion breakpoints and sizes (1-17 Mb) and overlapping phenotypes have made the identification of the disease causing genes challenging. We suggest JARID2 and ATXN1, both harbored in 6p22.3, as disease causing genes...
  3. doi request reprint Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
    Johan Robert Helle
    Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway
    Am J Med Genet A 161:1137-42. 2013
    ..Genetic redundancy between the three members of the B1 subfamily of SOX proteins during early human brain development likely explains the apparently normal development of brain structures in our patient who is nullisomic for SOX3...