Karen Helene Ørstavik

Professor emeritus - Avdeling for medisinsk genetikk
Bilde av Karen Helene Ørstavik
English version of this page
Brukernavn
Besøksadresse Kirkeveien 166 Laboratoriebygget 0450 Oslo
Postadresse OUS HF Ullevål sykehus Postboks 4956 Nydalen 0424 Oslo

Publikasjoner

  • 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 Vis sammendrag
  • 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 Vis sammendrag
  • 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 Vis sammendrag
  • 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 Vis sammendrag
  • 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

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
  • 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. Fulltekst i vitenarkiv. Vis sammendrag
  • 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. Vis sammendrag
  • 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. Vis sammendrag
  • 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. Vis sammendrag
  • 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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Publisert 8. des. 2014 14:57 - Sist endret 8. des. 2014 14:57