Karen Helene Ørstavik

Professor Emeritus - Department of Medical Genetics

Publications

  • Monclair, Tom; Lundar, Tryggve; Smevik, Bjarne; Holm, Ingunn & Ørstavik, Karen Helene (2013). Currarino syndrome at Rikshospitalet 1961-2012. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  133, s 2364- 2368 . doi: 10.4045/tidsskr.13.0352
  • Renault, Nisa K E; Pritchett, Sonja M.; Howell, Robin E.; Greer, Wenda L.; Sapienza, Carmen; Ørstavik, Karen Helene & Hamilton, David (2013). Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice. European Journal of Human Genetics.  ISSN 1018-4813.  21(12), s 1396- 1402 . doi: 10.1038/ejhg.2013.84
  • Mengel-From, Jonas; Thinggaard, Mikael; Christiansen, Lene; Vaupel, James W.; Ørstavik, Karen Helene & Christensen, Kaare (2012). Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons. European Journal of Human Genetics.  ISSN 1018-4813.  20(3), s 361- 364 . doi: 10.1038/ejhg.2011.215
  • Brix, TH; Hansen, Pia Skov; Bennedbæk, Finn Noe; Bonnema, Steen Joop; Kyvik, Kirsten Ohm; Ørstavik, Karen Helene & Hegedüs, L (2009). X Chromosome Inactivation Pattern is not Associated With Interindividual Variations in Thyroid Volume: A Study of Euthyroid Danish Female Twins. Twin Research and Human Genetics.  ISSN 1832-4274.  12(5), s 502- 506 . doi: http://www.swetswise.com/eAccess/viewFulltext.do?articleID=42797510
  • Brix, Thomas Heiberg; Hansen, Pia Skov; Knudsen, Gun Peggy; Kringen, Marianne K; Kyvik, Kirsten Ohm; Ørstavik, Karen Helene & Hegedüs, Laszlo (2009). No link between X chromosome inactivation pattern and simple goiter in females. Evidence from a twin study. Thyroid.  ISSN 1050-7256.  19(2), s 165- 169 . doi: 10.1089/thy.2008.0380
  • Lybæk, Helle; Ørstavik, Karen Helene; Prescon, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin & Houge, Gunnar (2009). An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion. European Journal of Human Genetics.  ISSN 1018-4813.  17(7), s 904- 910 . doi: 10.1038/ejhg.2008.261
  • Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, H; Sandvig, I; Ormerod, E; Houge, G & Frengen, Eirik (2009). Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother. American Journal of Medical Genetics.  ISSN 0148-7299.  149A(12), s 2877- 2881 . doi: 10.1002/ajmg.a.33106
  • Tatton-Brown, K; Pilz, DT; Ørstavik, Karen Helene; Patton, M; Barber, JCK; Collinson, MN; Maloney, VK; Huang, SW; Crolla, JA; Marks, K; Ormerod, Eli; Thompson, P; Nawaz, Z; Lese-Martin, C; Tomkins, S; Waits, P; Rahman, N & McEntagart, M (2009). 15q Overgrowth Syndrome: A Newly Recognized Phenotype Associated With Overgrowth, Learning Difficulties, Characteristic Facial Appearance, Renal Anomalies and Increased Dosage of Distal Chromosome 15q. American Journal of Medical Genetics.  ISSN 0148-7299.  149A(2), s 147- 154 . doi: 10.1002/ajmg.a.32534
  • Ørstavik, Karen Helene (2009). X chromosome inactivation in clinical practice. Human Genetics.  ISSN 0340-6717.  126(3), s 363- 373 . doi: 10.1007/s00439-009-0670-5
  • Knudsen, Gun Peggy Strømstad; Harbo, Hanne Flinstad; Smestad, C; Celius, EG; Akesson, E; Oturai, A; Ryder, LP; Spurkland, Anne & Ørstavik, Karen Helene (2007). X chromosome inactivation in females with multiple sclerosis. European Journal of Neurology.  ISSN 1351-5101.  14, s 1392- 1396 . doi: 10.1111/j.1468-1331.2007.01987.x
  • Jenkins, D; Seelow, D; Jehee, FS; Perlyn, CA; Alonso, LG; Bueno, DF; Donnai, D; Josifiova, D; Mathijssen, IMJ; Morton, JEV; Ørstavik, Karen Helene; Sweeney, E; Wall, SA; Marsh, JL; Nurnberg, P; Passos-Bueno, MR & Wilkie, AOM (2007). RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics.  ISSN 0002-9297.  80 . doi: 10.1086/518047
  • Knudsen, Gun Peggy Strømstad; Pedersen, June; Klingenberg, O; Lygren, I & Ørstavik, Karen Helene (2007). Increased skewing of X chromosome inactivation with age in both blood and buccal cells. Cytogenetic and Genome Research.  ISSN 1424-8581.  116, s 24- 28 . doi: 10.1159/000097414
  • Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter; Lazarou, Lazarous P; Rosser, Lyndon G; Prescott, Trine & Houge, Gunnar (2007). Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. American Journal of Medical Genetics.  ISSN 0148-7299.  143(13), s 1510- 1513
  • Ørstavik, Karen Helene; Tangeraas, Trine; Molven, Anders & Prescott, Trine E. (2007). Distal phalangeal creases - A distinctive dysmorphic feature in disorders of the RAS signalling pathway?. European Journal of Medical Genetics.  ISSN 1769-7212.  50(2), s 155- 158 . doi: 10.1016/j.ejmg.2006.12.003
  • Ørstavik, Karen Helene (2006). Skewed X inactivation in healthy individuals and in different diseases. Acta Paediatrica.  ISSN 0803-5253.  95, s 24- 29
  • Knudsen, Gun Peggy Strømstad; Neilson, TC; Pedersen, June; Kerr, A; Schwartz, Marianne; Hulten, M; Bailey, ME & Ørstavik, Karen Helene (2006). Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. European Journal of Human Genetics.  ISSN 1018-4813.  14(11), s 1189- 1194 . doi: 10.1038/sj.ejhg.5201682
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, K; Vege, Åshild; Eiklid, Kristin Louise; Abrahamsen, Tore G; Smahi, Asma & Steen-Johnsen, Jon (2006). Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. American Journal of Medical Genetics.  ISSN 0148-7299.  140(1), s 31- 39 . doi: 10.1002/ajmg.a.31026 Show summary
  • Brix, TH; Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne; Kyvik, KO; Ørstavik, Karen Helene & Hegedüs, L (2005). High frequency of skewed X chromosome inactivation in females with autoimmune thyroid disease. A possible explanation for the female predisposition to thyroid autoimmunity. Journal of Clinical Endocrinology and Metabolism.  ISSN 0021-972X.  90, s 5949- 5953
  • Charman, T; Neilson, TC; Mash, V; Archer, H; Gardiner, MT; Knudsen, Gun Peggy Strømstad; McDonnel, A; Perry, J; Whatley, S; Bunyan, DJ; Ravn, K; Mount, RH; Hastings, RP; Hulten, M; Ørstavik, Karen Helene; Reilly, S; Cass, H; Clarke, A; Kerr, AM & Bailey, ME (2005). Dimentional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European Journal of Human Genetics.  ISSN 1018-4813.  13, s 1121- 1130
  • Fritz, B; Kunz, J; Knudsen, Gun Peggy Strømstad; Louwen, F; Kennerknecht, I; Eiben, B; Ørstavik, Karen Helene; Friedrich, U & Rehder, H (2005). Situs ambiguus in a female fetus with balanced (X;21) translocation - evidence for functional nullisomy of the ZIC3 gene?. European Journal of Human Genetics.  ISSN 1018-4813.  13, s 34- 40
  • Grogan, PM; Tanner, SM; Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Saperstein, DS; Vogel, H; Barohn, RJ; Herbelin, LL; McVey, AL & Katz, JS (2005). Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. Neurology.  ISSN 0028-3878.  64, s 1638- 1640
  • Kringen, Marianne Kristiansen; Knudsen, Gun Peggy Strømstad; Bathum, L; Naumova, AK; Sorensen, TIA; Brix, TH; Svendsen, AJ; Christensen, K; Kyvik, KO & Ørstavik, Karen Helene (2005). Twin study of genetic and aging effects on X chromosome inactivation. European Journal of Human Genetics.  ISSN 1018-4813.  13
  • Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Maguire, P.; Margolin, S; Pedersen, June; Lindblom, A & Ørstavik, Karen Helene (2005). High incidence og skewed X chromosome inactivation in young patients with familial non-BRACA1/BRACA2 breast cancer. Journal of Medical Genetics.  ISSN 0022-2593.  42, s 877- 880
  • Lie, Rolv Terje; Lyngstadaas, A; Ørstavik, Karen Helene; Bakketeig, Leiv S.; Jacobsen, Geir & Tanbo, Tom (2005). Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis. International Journal of Epidemiology.  ISSN 0300-5771.  34(3), s 696- 701 Show summary
  • Meling, TR; Ørstavik, Karen Helene & Heiberg, Arvid (2004). Komplekse kraniofaciale synostoser. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  124, s 1230- 1234
  • Meling, Torstein Ragnar; Ørstavik, Karen Helene & Heiberg, Arvid (2004). Complex craniofacial synostosis.. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  124, s 1230- 1234
  • Jungbluth, H; Sewry, CA; Buj-Bello, A; Kristiansen, Marianne & Ørstavik, Karen Helene (2003). Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscular Disorders.  ISSN 0960-8966.  13, s 55- 59
  • Kristiansen, Marianne; Helland, Åslaug; Kristensen, Gunnar; Olsen, Anne; Lønning, Per Eystein; Børresen-Dale, Anne-Lise & Ørstavik, Karen Helene (2003). X chromosome inactivation in cervical cancer patients. Cancer Genetics and Cytogenetics.  ISSN 0165-4608.  146, s 73- 76
  • Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Tanner, SM; Robinson, D; MCEntagart, M; Liechti-Gallati, S; Ørstavik, Karen Helene & Wallgren-Pettersson, C (2003). X inactivation pattern in carriers of X-linked myotubular myopathy. Neuromuscular Disorders.  ISSN 0960-8966.  13, s 468- 471
  • Robertson, SP; Twigg, SR; Sutherland-Smith, AJ; Biancalana, V; Gorlin, RJ; Horn, D; Kenwrick, SJ; Kim, CA; Morava, E; Newbury-Ecob, R & Ørstavik, Karen Helene (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics.  ISSN 1061-4036.  33, s 487- 491
  • Sørlie, Therese; Tibshirani, R.; Parker, J; Hastie, T; Marron, J.S.; Nobel, A; Deng, S; Johnsen, Hilde; Pesich, R; Geisler, S.; Perou, C. M.; Lønning, Per Eystein; Brown, P. O; Børresen-Dale, Anne-Lise & Ørstavik, Karen Helene (2003). Repeated observation of breast tumor subtypes in independent gene expression data sets. Proceedings of the National Academy of Sciences of the United States of America.  ISSN 0027-8424.  100(14), s 8418- 8423
  • Ørstavik, Karen Helene (2003). Intracytoplasmatisk spermieinjeksjon og medfødte syndromer som skyldes imprintingsfeil. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  123, s 177
  • Ørstavik, Karen Helene (2003). Når arvestoffet avgjør livsutsiktene, I: Øivind Larsen; Anne Alvik; Kristian Hagestad & Magne Nylenna (red.),  Helse for de mange. Samfunnsmedisin i Norge.  Gyldendal Akademisk.  ISBN 82-05-31114-5.  Kapittel 34.  s 437 - 449
  • Ørstavik, Karen Helene; Eiklid, Kristin; Hagen, Carl Birger van der; Spetalen, S. & Skjeldal, Ola (2003). Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic sperm injection. American Journal of Human Genetics.  ISSN 0002-9297.  72(1), s 218- 219
  • Tanbo, Tom; Bakketeig, Leif S.; Jacobsen, Geir; Ørstavik, Karen Helene; Lie, Rolv Terje & Lyngstadaas, Anita (2002). Barn født etter intracytoplasmatisk spermieinjeksjon, I:  SMM-rapport nr. 3.  Sintef-Unimed.
  • Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Søyland, Anne; Westvik, Jostein & Ørstavik, Karen Helene (2002). Phenotypic variation i Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. American Journal of Medical Genetics.  ISSN 0148-7299.  108, s 120- 127 Show summary
  • Kristiansen, Marianne; Langerød, Anita; Knudsen, Gun Peggy Strømstad; Weber, Barbara; Børresen-Dale, Anne-Lise & Ørstavik, Karen Helene (2002). High frequency of skewed X-inactivation in young breast cancer patients. Journal of Medical Genetics.  ISSN 0022-2593.  39, s 30- 33 Show summary
  • Isaksen, Christina Vogt; Blaas, Harm-Gerd; Christensen, Benedicte; Roald, Borghild & Ørstavik, Karen Helene (2000). Sibs with anencephaly, anophtalmia, clefts, ompalocele and polydactyly: Hydrolethalus or Acrocollosal Syndrome. American Journal of Medical Genetics.  ISSN 0148-7299.  91, s 231- 234
  • Smeland, Erlend B; Prydz, Hans Peter B; Ørstavik, Karen Helene; Frøland, Stig Sophus; Aamdal, Steinar; Myklebost, Ola; Apold, J; Børresen-Dale, Anne-Lise; Seeberg, Erling Christen; Hovig, Eivind; Krokan, Hans E.; Berg, K. Andersen; Attramadal, Håvard; Solbakk, Jan Helge & Lyngstadaas, Anita (2000). Genterapi. Status og fremtidige muligheter innen klinisk medisin, I:  Tidlig identifikasjon og vurdering av nye metoder.  Senter for medisinsk metodevurdering.
  • Tanner, S.M.; Ørstavik, Karen Helene; Kristiansen, Marianne; Lev, D.; Sadeh, M & Liechti-Galati, S. (1999). Skewed X inactivationin a manifesting carrier of X-linked myotubular myopathy, and in her non-manifesting carrier mother. Human Genetics.  ISSN 0340-6717.  104, s 249- 253
  • Ørstavik, Karen Helene; Bechensteen, Anne Grete; Fugelseth, Drude M. & Orderud, Wenche (1998). Sibs with Ritscher-Schinzel (3C) Syndrome and anal malformations. American Journal of Medical Genetics.  ISSN 0148-7299.  75, s 300- 303
  • Fassone, L.; Gedeon, Agi; Janssen, E.; Bione, S.; Bolhuis, P.A.; Barth;, PG; Wilson, Marge; Haan, E.; Ørstavik, Karen Helene; Patton, M.A.; Green, A.J.; Zammarchi, E.; Donati, M.A. & Toniolo, Daniela (1997). The gene for Barth syndrome is responsible for different forms of severe infantile cardiomyopathies. American Journal of Human Genetics.  ISSN 0002-9297.  61, s 862- 867
  • Ørstavik, Karen Helene; Strømholm, Per; Ek, Johan; Torvik, Ansgar & Skjeldal, Ola (1997). Macrocephaly, epilepsy, autism, dystrophic features, and mental retardation in two sisters: a new autosomal recessive syndrome?. Journal of Medical Genetics.  ISSN 0022-2593.  34, s 849- 851
  • Ørstavik, Kristin; Roo, Hans & Ørstavik, Karen Helene (1997). Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features-a case of hereditary neuralgi amyotrophy?. Clinical Genetics.  ISSN 0009-9163.  75, s 421- 425
  • Røsby, Oddveig; Strømholm, Per; Sandsmark, Morten; Ramstad, Kjersti; Ormerod, Eli; Hagen, Carl Birger van der; Kubota, T & Ørstavik, Karen Helene (1996). Unilateral cleft lip in a boy with Angelman syndrome. Journal of Craniofacial Genetics and Developmental Biology.  ISSN 0270-4145.  16, s 122- 125
  • Schwartz, Marianne; Bekassy, A.N.; Donner, M; Herte, T; Hjeidarson, S; Kerndrup, G; Ørstavik, Karen Helene & Skovby, Flemming (1996). Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked trombocytopenia: Identification of twelve different mutations in the WASP gene. Thrombosis and Haemostasis.  ISSN 0340-6245.  75, s 546- 550
  • Ørstavik, Karen Helene; Ørstavik, Ragnhild; Eiklid, Kristin & Traneberg, Lisbeth (1996). Inheritance of skewed X inactivation in a large family with an X-linked recessive deafness syndrome. American Journal of Medical Genetics.  ISSN 0148-7299.  64, s 31- 34
  • Ørstavik, Karen Helene; Ørstavik, Ragnhild; Halse, Johan I. & Knudtzon, Jørgen (1996). X chromosome inactivation pattern in female carriers of X-linked hypophosphatemic rickets. Journal of Medical Genetics.  ISSN 0022-2593.  33, s 700- 703
  • Ørstavik, Karen Helene; Ørstavik, Ragnhild; Halse, Johan I. & Knudtzon, Jørgen (1996). X-chromosome inactivation pattern in female carriers of X-linked hypophosphataemic rickets. Journal of Medical Genetics.  ISSN 0022-2593.  33, s 700- 703
  • Ørstavik, Karen Helene; Magnus, P; Reisner, H; Berg, K; Graham, JB & Nance, W (1985). Factor VIII and factor IX in a twin population. American Journal of Human Genetics.  ISSN 0002-9297.  37, s 89- 101
  • Ørstavik, Karen Helene (1981). Alloantibodies to factor IX in haemophilia B characterized by crossed immunoelectrophoresis and enzymeconjugated antisera to human immunoglobulins. British Journal of Haematology.  ISSN 0007-1048.  48, s 15- 23
  • Ørstavik, Karen Helene (1981). Factor IX alloantibodies shorten the bovine thromboplastin coagulation time of normal human plasma. Thrombosis Research.  ISSN 0049-3848.  46, s 684- 686
  • Ørstavik, Karen Helene & Ørstavik, I (1981). Enzyme-linked immunosorbent assay (ELISA) for detection of antibodies to factor IX in hemophilia B. Thrombosis Research.  ISSN 0049-3848.  22, s 253- 257
  • Ørstavik, Karen Helene (1979). Electroimmunoassay of factor IX antigen: Increased sensitivity by enzyme amplification of immunoprecipitates. Thrombosis Research.  ISSN 0049-3848.  15, s 721- 726
  • Ørstavik, Karen Helene; Veltkamp, JJ; Bertina, RM & Hermans, J (1979). Detection of carriers of haemophilia B. British Journal of Haematology.  ISSN 0007-1048.  42, s 293- 301
  • Holmberg, L; Nilsson, IM; Henriksson, P & Ørstavik, Karen Helene (1978). Homozygous expression of haemophilia B in a heterozygote. Acta medica Scandinavica.  ISSN 0001-6101.  204, s 231- 234
  • Ly, B; Solum, NO; Vennerød, AM; Dahl, O; Hagen, I & Ørstavik, Karen Helene (1978). A syndrome of factor VVI deficiency and abnormal platelet release reaction. Scandinavian Journal of Haematology.  ISSN 0036-553X.  21, s 206- 214
  • Ørstavik, Karen Helene & Laake, K (1978). Antiserum against factor IX shotrens the bovine thromboplastin coagulation time of human plasma. Thrombosis Research.  ISSN 0049-3848.  12, s 455- 465
  • Ørstavik, Karen Helene & Laake, K (1978). Factor IX in warfarin treated patients. Thrombosis Research.  ISSN 0049-3848.  13, s 207- 218
  • Ørstavik, Karen Helene & Nilsson, IM (1978). A study of acquired inhibitors of factor IX by means of precipitating rabbit antisera against factor IX. Thrombosis Research.  ISSN 0049-3848.  12, s 863- 874
  • Vennerød, AM; Ørstavik, Karen Helene; Laake, K; Fagervold, M & Ly, B (1977). Purification of human factor IX. Thrombosis Research.  ISSN 0049-3848.  11, s 663- 672
  • Ørstavik, Karen Helene (1977). Comparison of precipitating antisera against normal and abnormal factor IX. Thrombosis Research.  ISSN 0049-3848.  10, s 731- 741
  • Ørstavik, Karen Helene; Vennerød, AM & Laake, K (1977). Studies of human factor IX by a high-titered sheep antiserum against factor IX. Thrombosis Research.  ISSN 0049-3848.  11, s 653- 662
  • Ørstavik, Karen Helene; Østerud, B; Prydz, H & Berg, K (1975). Electroimmunoassay of factor IX in hemophilia B. Thrombosis Research.  ISSN 0049-3848.  7, s 373- 382

View all works in Cristin

  • Ørstavik, Karen Helene (2017). Hvorfor er autoimmune sykdommer hyppigere hos kvinner?. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  137(12/13), s 866- 868 . doi: 10.4045/tidsskr.16.0935
  • Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Behayan; Ruddy, Deborah M.; Wakeling, Emma L.; Ørstavik, Karen Helene; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura & Zenker, Martin (2015). DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Human Mutation.  ISSN 1059-7794.  36(6), s 593- 598 . doi: 10.1002/humu.22795
  • Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan; Ruddy, Deborah M.; Wakeling, Emma; Ørstavik, Karen Helene; Bramswig, Nuria C.; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura & Zenker, Martin (2015). Erratum to DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies [Human Mutation 2015, 36(6):593-598(DOI:10.1002/humu22795]. Human Mutation.  ISSN 1059-7794.  36(11), s 1112- 1112 . doi: 10.1002/humu.22830
  • Knudsen, Gun Peggy Strømstad; Riegert-Johnson, DL; Meling, Gunn Iren; Boardman, LA & Ørstavik, Karen Helene (2008). Lack of association between skewing of X-chromosome inactivation in blood cells and colorectal cancer. International Journal of Biological Markers (IJBM).  ISSN 0393-6155.  23, s 127- 128
  • Knudsen, Gun Peggy Strømstad & Ørstavik, Karen Helene (2008). X chromosome inactivation and phenotype. Dissertation for the degree of Dr.Med.. 582.
  • Ørstavik, Karen Helene; Misceo, Doriana; Lybæk, H; Frengen, Eirik & Houge, G (2008). A terminal 7,1 Mb chromosome 18p deletion flanked by a 2,3 Mb duplication in a phenotypically normal mother and her microcephalic and mentally retarded son. European Journal of Human Genetics.  ISSN 1018-4813.  16
  • Holte, Therese Opsahl; Hofmann, Bjørn; Lie, Rolv T; Norderhaug, Inger Natvig; Romundstad, Pål; Sæterdal, Ingvil von Mehren; Ørstavik, Karen Helene & Tanbo, Tom Gunnar (2007). Mannlig infertilitet: Intracytoplasmatisk spermieinjeksjon (ICSI) med spermier uthentet fra bitestikkel eller testikkel. Rapport fra Kunnskapssenteret. 7/2007. Full text in Research Archive. Show summary
  • Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne & Ørstavik, Karen Helene (2004). Genetic effect on X chromosome inactivation: A study of young and elderly twins.
  • Knudsen, Gun Peggy Strømstad; Pedersen, June; Lygren, Idar & Ørstavik, Karen Helene (2004). Variation of X inactivation pattern in different tissues in women aged 19-90 years.
  • Knudsen, Gun Peggy Strømstad; Pedersen, June; Thorstensen, L.; Løvig, T; Lothe, Ragnhild A; Meling, G.I & Ørstavik, Karen Helene (2004). X chromosome inactivation in blood and tumor from females with colorectal cancer.
  • Knudsen, Gun Peggy Strømstad & Ørstavik, Karen Helene (2004). No difference in CAG repeat length of the androgen receptor gene between nonagenerian and centenarian males and a younger control population.
  • Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Maguire, P.; Pedersen, June; Lindblom, A & Ørstavik, Karen Helene (2004). High incidence of skewed X inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer.
  • Ørstavik, Karen Helene; Kristiansen, Marianne & Knudsen, Gun Peggy Strømstad (2004). Age-related skewing of X chromosome inactivation is not a stochastic process.
  • Ørstavik, Karen Helene; Kristiansen, Marianne & Knudsen, Gun Peggy Strømstad (2004). X chromosome inactivation and advanced age.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, K; Vege, Åshild; Eiklid, Kristin; Abrahamsen, Tore G; Smahi, Asma & Steen-Johnsen, Jon (2004). Novel splicing mutation in the NEMO (IKK-gamma) gene with impaired IkBa degradation in a family with severe immunodeficiency and both skewed and random X inactivation in female carriers.
  • Robertson, SP; Twigg, SR; Sutherland-Smith, AJ; Biancalana, V; Gorlin, RJ; Horn, D; Kenwrick, SJ; Kim, Cae; Morava, E; Newbury-Ecob, R & Ørstavik, Karen Helene (2003). Localised mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
  • Rootwelt, T; Helbig, A; Ørstavik, Karen Helene & Kvittingen, Eli Anne (2003). Severe malformations in sibs with complex I deficiency.
  • Van der hagen, CB; Eiklid, Kristin & Ørstavik, Karen Helene (2003). Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental dicomy 9 in the child.
  • Ørstavik, Karen Helene; Kristiansen, Marianne & Knudsen, Gun Peggy Strømstad (2003). Lethal immunodeficiency and heterogeneity of X inactivation phenotype in a large family with a splicing mutation in the NEMO (IKK-gamma) gene.
  • Tanbo, Tom; Bakketeig, Leif S.; Jacobsen, Geir; Ørstavik, Karen Helene; Lie, Rolv Terje & Lyngstadaas, Anita (red.) (2002). Barn født etter intracytoplasmisk spermieinjeksjon.
  • Tanbo, Tom; Bakketeig, Leiv S; Bakketeig, Leiv S; Jacobsen, Geir; Ørstavik, Karen Helene; Lie, Rolv Terje & Lyngstadaas, Anita (2002). Barn født etter intracytoplasmatisk spermieinjeksjon. SMM-rapportserie (Senter for medisinsk metodevurdering). SMM-rapport 3/2002.
  • Steen-Johnsen, Jon; Abrahamsen, Tore G & Ørstavik, Karen Helene (2002). Genetisk drama med løsning etter 30 år.
  • Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne; Storhaug, Kari; Abrahamsen, Tore G; Steen-Johnsen, Jon; Smahi, Asma; Courtois, Gilles & Ørstavik, Karen Helene (2001). X-linked immunodeficiency, inflammatory bowel disease and hypohydrotic ectodermal dysplasia in a large family. Show summary
  • Kristiansen, Marianne; Langerød, Anita; Knudsen, Gun Peggy Strømstad; Calzone, Kathy; Webwe, Barbara L.; Børresen-Dale, Anne-Lise & Ørstavik, Karen Helene (2001). High frequency of skewed X inactivation in young breast cancer patient. Show summary
  • Strømholm, Per; Abrahamsen, Tore G & Ørstavik, Karen Helene (2001). Possible novel mental retardation - immune deficiency syndrome.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Hagen-Larsen, Heidi; Knudsen, Gun Peggy Strømstad; Vaupel, J.W.; Bathum, Lise; Naumova, Anna K. & Christensen, Kaare (2001). Increased skewing of X inactivation in elderly females may be determined by genes linked to the G6PD gene. Show summary
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, Kari; Abrahamsen, Tore G & Steen-Johnsen, Jon (2000). An unclassified X-linked immunodeficiency syndrome with signs of hypohidrotic ectodermal dysplasia in a Norwegian family does not map to ED1.
  • Kristiansen, Marianne; Knudsen, G.P.S.; Hagen, Carl Birger van der & Ørstavik, Karen Helene (1999). X inactivation pattern in females with recurrent spontaneous abortions.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Hagen-Larsen, Heidi; Skytthe, A.; Bathum, Lise; Vaupel, J.W. & Christensen, Kaare (1999). Evidence of a genetic influence on the skewed X-inactiavtion in elderly females: A twin study.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Hagen-Larsen, Heidi; Skytthe, A.; Bathum, Lise; Vaupel, J.W. & Christensen, Kaare (1999). Evidence of a genetic influence on the skewed X-inactivation in elderly females.
  • Ørstavik, Karen Helene (1997). Psykisk utviklingshemning. Fremskritt i jakten på årsaker gir nye utfordringer for den behandlende lege. Tidsskrift for Den norske legeforening.  ISSN 0029-2001.  117, s 1438
  • Ørstavik, Karen Helene & Bechensteen, Anne Grete (1997). Ritscher-Schinzel syndrome with previously unreported anal malformations in 3 sibs of consanguineous Pakistani parents.
  • Bione, S.; Maestrini, E; Gedeon, Agi; Bolhuis, P.A.; Donati, M.A.; Ørstavik, Karen Helene & Toniolo, Daniela (1996). Identification of new mutations in the gene responsible for Barth syndrome, in Xq28.
  • Ørstavik, Karen Helene; Ørstavik, Ragnhild; Eiklid, Kristin & Traneberg, Lisbeth (1996). X-linked inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.

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Published Dec. 8, 2014 3:00 PM - Last modified Dec. 8, 2014 3:00 PM