Karen Helene Ørstavik

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Publikasjoner

  • Mengel-From, Jonas; Lindahl-Jacobsen, Rune; Nygaard, Marianne; Soerensen, Mette; Ørstavik, Karen Helene & Hertz, Jens Michael [Vis alle 9 forfattere av denne artikkelen] (2021). Skewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women. Scientific Reports. ISSN 2045-2322. 11(1). doi: 10.1038/s41598-021-83702-2. Fulltekst i vitenarkiv
  • 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 [Vis alle 7 forfattere av denne artikkelen] (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.
  • 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.
  • Brix, Thomas Heiberg; Hansen, Pia Skov; Knudsen, Gun Peggy; Kringen, Marianne K; Kyvik, Kirsten Ohm & Ørstavik, Karen Helene [Vis alle 7 forfattere av denne artikkelen] (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.
  • Tatton-Brown, K; Pilz, DT; Ørstavik, Karen Helene; Patton, M; Barber, JCK & Collinson, MN [Vis alle 18 forfattere av denne artikkelen] (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.
  • Brix, TH; Hansen, Pia Skov; Bennedbæk, Finn Noe; Bonnema, Steen Joop; Kyvik, Kirsten Ohm & Ørstavik, Karen Helene [Vis alle 7 forfattere av denne artikkelen] (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.
  • Lybæk, Helle; Ørstavik, Karen Helene; Prescon, Trine; Hovland, Randi; Breilid, Harald & Stansberg, Christine [Vis alle 8 forfattere av denne artikkelen] (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 [Vis alle 7 forfattere av denne artikkelen] (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.
  • 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; 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.
  • Jenkins, D; Seelow, D; Jehee, FS; Perlyn, CA; Alonso, LG & Bueno, DF [Vis alle 17 forfattere av denne artikkelen] (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; Harbo, Hanne Flinstad; Smestad, C; Celius, EG; Akesson, E & Oturai, A [Vis alle 9 forfattere av denne artikkelen] (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.
  • Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter & Lazarou, Lazarous P [Vis alle 9 forfattere av denne artikkelen] (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; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, K; Vege, Åshild & Eiklid, Kristin Louise [Vis alle 9 forfattere av denne artikkelen] (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.
  • 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 [Vis alle 8 forfattere av denne artikkelen] (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.
  • Fritz, B; Kunz, J; Knudsen, Gun Peggy Strømstad; Louwen, F; Kennerknecht, I & Eiben, B [Vis alle 9 forfattere av denne artikkelen] (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 [Vis alle 10 forfattere av denne artikkelen] (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 [Vis alle 10 forfattere av denne artikkelen] (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 [Vis alle 7 forfattere av denne artikkelen] (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.
  • 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 (JCEM). ISSN 0021-972X. 90, s. 5949–5953.
  • Charman, T; Neilson, TC; Mash, V; Archer, H; Gardiner, MT & Knudsen, Gun Peggy Strømstad [Vis alle 20 forfattere av denne artikkelen] (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.
  • 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.
  • 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.
  • Ørstavik, Karen Helene (2003). Når arvestoffet avgjør livsutsiktene. I Larsen, Øivind; Alvik, Anne; Hagestad, Kristian & Nylenna, Magne (Red.), Helse for de mange. Samfunnsmedisin i Norge. Gyldendal Akademisk. ISSN 82-05-31114-5. 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.
  • Sørlie, Therese; Tibshirani, R.; Parker, J; Hastie, T; Marron, J.S. & Nobel, A [Vis alle 15 forfattere av denne artikkelen] (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.
  • Robertson, SP; Twigg, SR; Sutherland-Smith, AJ; Biancalana, V; Gorlin, RJ & Horn, D [Vis alle 11 forfattere av denne artikkelen] (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.
  • 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; Knudsen, Gun Peggy Strømstad; Tanner, SM; Robinson, D; MCEntagart, M & Liechti-Gallati, S [Vis alle 8 forfattere av denne artikkelen] (2003). X inactivation pattern in carriers of X-linked myotubular myopathy. Neuromuscular Disorders. ISSN 0960-8966. 13, s. 468–471.
  • Kristiansen, Marianne; Helland, Åslaug; Kristensen, Gunnar; Olsen, Anne; Lønning, Per Eystein & Børresen-Dale, Anne-Lise [Vis alle 7 forfattere av denne artikkelen] (2003). X chromosome inactivation in cervical cancer patients. Cancer Genetics and Cytogenetics. ISSN 0165-4608. 146, s. 73–76.
  • Tanbo, Tom; Bakketeig, Leif S.; Jacobsen, Geir; Ørstavik, Karen Helene; Lie, Rolv Terje & Lyngstadaas, Anita (2002). Barn født etter intracytoplasmatisk spermieinjeksjon, 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.
  • 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.
  • Smeland, Erlend B; Prydz, Hans Peter B; Ørstavik, Karen Helene; Frøland, Stig Sophus; Aamdal, Steinar & Myklebost, Ola [Vis alle 15 forfattere av denne artikkelen] (2000). Genterapi. Status og fremtidige muligheter innen klinisk medisin, Tidlig identifikasjon og vurdering av nye metoder. Senter for medisinsk metodevurdering.
  • 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.
  • 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.
  • 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.
  • Fassone, L.; Gedeon, Agi; Janssen, E.; Bione, S.; Bolhuis, P.A. & Barth;, PG [Vis alle 14 forfattere av denne artikkelen] (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, 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.
  • 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; 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.
  • Schwartz, Marianne; Bekassy, A.N.; Donner, M; Herte, T; Hjeidarson, S & Kerndrup, G [Vis alle 8 forfattere av denne artikkelen] (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; 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.
  • Røsby, Oddveig; Strømholm, Per; Sandsmark, Morten; Ramstad, Kjersti; Ormerod, Eli & Hagen, Carl Birger van der [Vis alle 8 forfattere av denne artikkelen] (1996). Unilateral cleft lip in a boy with Angelman syndrome. Journal of Craniofacial Genetics and Developmental Biology. ISSN 0270-4145. 16, s. 122–125.
  • 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 & 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 (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; Veltkamp, JJ; Bertina, RM & Hermans, J (1979). Detection of carriers of haemophilia B. British Journal of Haematology. ISSN 0007-1048. 42, s. 293–301.
  • 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 & 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.
  • 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.
  • 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.
  • 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.
  • Ørstavik, Karen Helene (1977). Comparison of precipitating antisera against normal and abnormal factor IX. Thrombosis Research. ISSN 0049-3848. 10, s. 731–741.
  • 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; 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.

Se alle arbeider i 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.
  • Ørstavik, Karen Helene (2015). Mary Lyon og hypotesen om X-kromosominaktivering : . Tidsskrift for Den norske legeforening. ISSN 0029-2001. 135(12/13), s. 1150–1151. doi: 10.4045/tidsskr.15.0512.
  • Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan & Ruddy, Deborah M. [Vis alle 18 forfattere av denne artikkelen] (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.
  • Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Behayan & Ruddy, Deborah M. [Vis alle 17 forfattere av denne artikkelen] (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.
  • 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.
  • 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.
  • 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). X chromosome inactivation and advanced age.
  • Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne & Ørstavik, Karen Helene (2004). Genetic effect on X chromosome inactivation: A study of young and elderly twins.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, K; Vege, Åshild & Eiklid, Kristin [Vis alle 9 forfattere av denne artikkelen] (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.
  • Knudsen, Gun Peggy Strømstad; Pedersen, June; Thorstensen, L.; Løvig, T; Lothe, Ragnhild A & Meling, G.I [Vis alle 7 forfattere av denne artikkelen] (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.
  • 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.
  • Ørstavik, Karen Helene; Kristiansen, Marianne & Knudsen, Gun Peggy Strømstad (2004). Age-related skewing of X chromosome inactivation is not a stochastic process.
  • Robertson, SP; Twigg, SR; Sutherland-Smith, AJ; Biancalana, V; Gorlin, RJ & Horn, D [Vis alle 11 forfattere av denne artikkelen] (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.
  • Steen-Johnsen, Jon; Abrahamsen, Tore G & Ørstavik, Karen Helene (2002). Genetisk drama med løsning etter 30 år.
  • Strømholm, Per; Abrahamsen, Tore G & Ørstavik, Karen Helene (2001). Possible novel mental retardation - immune deficiency syndrome.
  • Kristiansen, Marianne; Langerød, Anita; Knudsen, Gun Peggy Strømstad; Calzone, Kathy; Webwe, Barbara L. & Børresen-Dale, Anne-Lise [Vis alle 7 forfattere av denne artikkelen] (2001). High frequency of skewed X inactivation in young breast cancer patient.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Hagen-Larsen, Heidi; Knudsen, Gun Peggy Strømstad; Vaupel, J.W. & Bathum, Lise [Vis alle 8 forfattere av denne artikkelen] (2001). Increased skewing of X inactivation in elderly females may be determined by genes linked to the G6PD gene.
  • Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne; Storhaug, Kari; Abrahamsen, Tore G; Steen-Johnsen, Jon & Smahi, Asma [Vis alle 8 forfattere av denne artikkelen] (2001). X-linked immunodeficiency, inflammatory bowel disease and hypohydrotic ectodermal dysplasia in a large family.
  • 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.
  • Ørstavik, Karen Helene; Kristiansen, Marianne; Hagen-Larsen, Heidi; Skytthe, A.; Bathum, Lise & Vaupel, J.W. [Vis alle 7 forfattere av denne artikkelen] (1999). Evidence of a genetic influence on the skewed X-inactiavtion in elderly females: A twin study.
  • 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. [Vis alle 7 forfattere av denne artikkelen] (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.
  • Ørstavik, Karen Helene & Bechensteen, Anne Grete (1997). Ritscher-Schinzel syndrome with previously unreported anal malformations in 3 sibs of consanguineous Pakistani parents.
  • 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.
  • Bione, S.; Maestrini, E; Gedeon, Agi; Bolhuis, P.A.; Donati, M.A. & Ørstavik, Karen Helene [Vis alle 7 forfattere av denne artikkelen] (1996). Identification of new mutations in the gene responsible for Barth syndrome, in Xq28.
  • Knudsen, Gun Peggy Strømstad & Ørstavik, Karen Helene (2008). X chromosome inactivation and phenotype. Unipub forlag. ISSN 978-82-8072-716-9.
  • Holte, Therese Opsahl; Hofmann, Bjørn; Lie, Rolv T; Norderhaug, Inger Natvig; Romundstad, Pål & Sæterdal, Ingvil von Mehren [Vis alle 8 forfattere av denne artikkelen] (2007). Mannlig infertilitet: Intracytoplasmatisk spermieinjeksjon (ICSI) med spermier uthentet fra bitestikkel eller testikkel. Nasjonalt kunnskapssenter for helsetjenesten. ISSN 978-82-8121-148-3. Fulltekst i vitenarkiv
  • Tanbo, Tom; Bakketeig, Leif S.; Jacobsen, Geir; Ørstavik, Karen Helene; Lie, Rolv Terje & Lyngstadaas, Anita (2002). Barn født etter intracytoplasmisk spermieinjeksjon. Sintef rapport, Oslo. ISSN 82-14-02763-2.
  • Tanbo, Tom; Bakketeig, Leiv S; Bakketeig, Leiv S; Jacobsen, Geir; Ørstavik, Karen Helene & Lie, Rolv Terje [Vis alle 7 forfattere av denne artikkelen] (2002). Barn født etter intracytoplasmatisk spermieinjeksjon. Senter for medisinsk metodevurdering. ISSN 82-14-02763-2.

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Publisert 8. des. 2014 14:57 - Sist endret 17. mars 2022 14:56