Hilde Monica Frostad Riise Stensland

Summary

Affiliation: University Hospital of North Norway
Country: Norway

Publications

  1. pmc Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Claudia Voigt
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Orphanet J Rare Dis 8:110. 2013
  2. doi request reprint Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations
    Hilde Monica Frostad Riise Stensland
    Department of Medical Genetics, University Hospital of Northern Norway, Tromsø, Norway
    Mol Genet Metab 94:476-80. 2008
  3. doi request reprint Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations
    Hilde Monica Frostad Riise Stensland
    Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
    Hum Mutat 33:511-20. 2012
  4. pmc A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
    Frédérique Sabourdy
    Laboratoire de Biochimie Maladies Métaboliques, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
    BMC Med Genet 10:84. 2009

Collaborators

  • Hilde Monica Frostad Riise Stensland
  • Claudia Voigt
  • Gaute Martin Hansen
  • Frédérique Sabourdy
  • Alma Kuechler
  • Dagmar Wieczorek
  • Johanna Christina Czeschik
  • Marie Falkenberg Smeland
  • Maria Puiu
  • Carlo Marcelis
  • Andre Megarbane
  • Rainer König
  • Andreas Hehr
  • Bernd Schweiger
  • Han G Brunner
  • Christopher Teller
  • Kornelia Neveling
  • Marcel Martin
  • Willie Reardon
  • Sven Rahmann
  • Beate Albrecht
  • Ute Hehr
  • Hermann Josef Lüdecke
  • Bert Callewaert
  • Florian Von Deimling
  • Marloes Steehouwer
  • Øivind Nilssen
  • Dag Malm
  • Helle Bagterp Klenow
  • Lam Van Nguyen
  • Dimitri Renard
  • Giovanni Castelnovo
  • Violeta Latorre Garcés
  • Michèle Nieto
  • Pierre Labauge
  • Nicolas de Champfleur
  • Thierry Levade
  • Silvia Paciotti
  • Chiara Balducci
  • Lucia Bibi
  • Tommaso Beccari
  • Emanuele Persichetti
  • Carmelita Sorriso

Detail Information

Publications4

  1. pmc Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Claudia Voigt
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Orphanet J Rare Dis 8:110. 2013
    ..Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892)...
  2. doi request reprint Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations
    Hilde Monica Frostad Riise Stensland
    Department of Medical Genetics, University Hospital of Northern Norway, Tromsø, Norway
    Mol Genet Metab 94:476-80. 2008
    ..We propose that the milder phenotype described in some beta-mannosidosis patients with missense mutations in the MANBA gene is not due to residual beta-mannosidase activity, but rather caused by epigenetic and/or environmental factors...
  3. doi request reprint Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations
    Hilde Monica Frostad Riise Stensland
    Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
    Hum Mutat 33:511-20. 2012
    ..The majority of the variants were inactive, however, ten showed MAN2B1 activity above background, and more detailed studies are necessary to further evaluate the pathogenicity of these variants...
  4. pmc A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
    Frédérique Sabourdy
    Laboratoire de Biochimie Maladies Métaboliques, Institut Fédératif de Biologie, CHU Purpan, Toulouse, France
    BMC Med Genet 10:84. 2009
    ..These are all null mutations or missense mutations that abolish beta-mannosidase activity. In this study, we characterized the molecular defect of a new case of beta-mannosidosis, presenting with a severe neurological disorder...