K H Orstavik

Summary

Country: Norway

Publications

  1. ncbi Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?
    K H Orstavik
    Department of Medical Genetics, Ulleval Hospital, Oslo, Norway
    Am J Med Genet 78:260-2. 1998
  2. ncbi X chromosome inactivation in carriers of Barth syndrome
    K H Orstavik
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Am J Hum Genet 63:1457-63. 1998
  3. ncbi Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B
    K H Orstavik
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Thromb Haemost 83:433-7. 2000
  4. ncbi [Gene therapy for monogenic inherited diseases]
    K H Ørstavik
    Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo
    Tidsskr Nor Laegeforen 121:349-50. 2001
  5. ncbi X-inactivation patterns in carriers of X-linked myotubular myopathy
    M Kristiansen
    Department of Medical Genetics, Institute of Medical Genetics, University of Oslo, Oslo, Norway
    Neuromuscul Disord 13:468-71. 2003
  6. ncbi Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations
    K H Orstavik
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Am J Med Genet 75:300-3. 1998
  7. ncbi High frequency of skewed X inactivation in young breast cancer patients
    M Kristiansen
    Institute of Medical Genetics, University of Oslo, Oslo, Norway
    J Med Genet 39:30-3. 2002
  8. ncbi Increased skewing of X chromosome inactivation with age in both blood and buccal cells
    G P S Knudsen
    Department of Medical Genetics, Faculty Division, Rikshospitalet, University of Oslo, Oslo, Norway
    Cytogenet Genome Res 116:24-8. 2007

Detail Information

Publications8

  1. ncbi Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?
    K H Orstavik
    Department of Medical Genetics, Ulleval Hospital, Oslo, Norway
    Am J Med Genet 78:260-2. 1998
    ..This may be an autosomal recessive or dominant trait with gonadal mosaicism in one of the parents...
  2. ncbi X chromosome inactivation in carriers of Barth syndrome
    K H Orstavik
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Am J Hum Genet 63:1457-63. 1998
    ..Since BTHS also shows great clinical variation within families, additional factors are likely to influence the expression of the phenotype. Such factors may also influence the selection mechanism in carriers...
  3. ncbi Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B
    K H Orstavik
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Thromb Haemost 83:433-7. 2000
    ..We conclude that the wide range in plasma concentration of factor VIII and factor IX in haemophilia A and B carriers cannot in general be explained by the X chromosome inactivation pattern in peripheral blood cells...
  4. ncbi [Gene therapy for monogenic inherited diseases]
    K H Ørstavik
    Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo
    Tidsskr Nor Laegeforen 121:349-50. 2001
    ..Most monogenic disorders are severe and have no cure. Gene therapy will therefore often be the only possible treatment...
  5. ncbi X-inactivation patterns in carriers of X-linked myotubular myopathy
    M Kristiansen
    Department of Medical Genetics, Institute of Medical Genetics, University of Oslo, Oslo, Norway
    Neuromuscul Disord 13:468-71. 2003
    ..Thus, there was a tendency for females with a more severe phenotype to have a skewed pattern of X inactivation, while females with an intermediate phenotype had a random pattern of X-inactivation...
  6. ncbi Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations
    K H Orstavik
    Department of Medical Genetics, Ulleval University Hospital, Oslo, Norway
    Am J Med Genet 75:300-3. 1998
    ..Anal anomalies have not been previously reported as a component manifestation of the disorder. The occurrence of 3 affected sibs in a consanguineous family confirms autosomal recessive inheritance...
  7. ncbi High frequency of skewed X inactivation in young breast cancer patients
    M Kristiansen
    Institute of Medical Genetics, University of Oslo, Oslo, Norway
    J Med Genet 39:30-3. 2002
    ....
  8. ncbi Increased skewing of X chromosome inactivation with age in both blood and buccal cells
    G P S Knudsen
    Department of Medical Genetics, Faculty Division, Rikshospitalet, University of Oslo, Oslo, Norway
    Cytogenet Genome Res 116:24-8. 2007
    ....