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2017
1 Ørstavik, Karen Helene.
Hvorfor er autoimmune sykdommer hyppigere hos kvinner?. Tidsskrift for Den norske legeforening 2017 ;Volume 137.(12/13) p. 866-868
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2015
2 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.
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Human Mutation 2015 ;Volume 36.(6) p. 593-598
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3 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.
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 2015 ;Volume 36.(11) p. 1112-1112
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2013
4 Monclair, Tom; Lundar, Tryggve; Smevik, Bjarne; Holm, Ingunn; Ørstavik, Karen Helene.
Currarino syndrome at Rikshospitalet 1961-2012. Tidsskrift for Den norske legeforening 2013 ;Volume 133. p. 2364-2368
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5 Renault, Nisa K E; Pritchett, Sonja M.; Howell, Robin E.; Greer, Wenda L.; Sapienza, Carmen; Ørstavik, Karen Helene; Hamilton, David.
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 2013 ;Volume 21.(12) p. 1396-1402
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2012
6 Mengel-From, Jonas; Thinggaard, Mikael; Christiansen, Lene; Vaupel, James W.; Ørstavik, Karen Helene; Christensen, Kaare.
Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons. European Journal of Human Genetics 2012 ;Volume 20.(3) p. 361-364
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2009
7 Brix, TH; Hansen, Pia Skov; Bennedbæk, Finn Noe; Bonnema, Steen Joop; Kyvik, Kirsten Ohm; Ørstavik, Karen Helene; Hegedüs, L.
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 2009 ;Volume 12.(5) p. 502-506
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8 Brix, Thomas Heiberg; Hansen, Pia Skov; Knudsen, Gun Peggy; Kringen, Marianne K; Kyvik, Kirsten Ohm; Ørstavik, Karen Helene; Hegedüs, Laszlo.
No link between X chromosome inactivation pattern and simple goiter in females. Evidence from a twin study. Thyroid 2009 ;Volume 19.(2) p. 165-169
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9 Lybæk, Helle; Ørstavik, Karen Helene; Prescon, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin; Houge, Gunnar.
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 2009 ;Volume 17.(7) p. 904-910
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10 Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, H; Sandvig, I; Ormerod, E; Houge, G; Frengen, Eirik.
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 2009 ;Volume 149A.(12) p. 2877-2881
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11 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.
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 2009 ;Volume 149A.(2) p. 147-154
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12 Ørstavik, Karen Helene.
X chromosome inactivation in clinical practice. Human Genetics 2009 ;Volume 126.(3) p. 363-373
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2008
13 Knudsen, Gun Peggy Strømstad; Riegert-Johnson, DL; Meling, Gunn Iren; Boardman, LA; Ørstavik, Karen Helene.
Lack of association between skewing of X-chromosome inactivation in blood cells and colorectal cancer. International Journal of Biological Markers (IJBM) 2008 ;Volume 23. p. 127-128
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14 Knudsen, Gun Peggy Strømstad.
X chromosome inactivation and phenotype. Unipub forlag 2008 (ISBN 978-82-8072-716-9) Dissertation for the degree of Dr.Med.(582)
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15 Ørstavik, Karen Helene; Misceo, Doriana; Lybæk, H; Frengen, Eirik; Houge, G.
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 2008 ;Volume 16. Suppl. 2
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2007
16 Knudsen, Gun Peggy Strømstad; Harbo, Hanne Flinstad; Smestad, C; Celius, EG; Akesson, E; Oturai, A; Ryder, LP; Spurkland, Anne; Ørstavik, Karen Helene.
X chromosome inactivation in females with multiple sclerosis. European Journal of Neurology 2007 ;Volume 14. p. 1392-1396
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17 Holte, Therese Opsahl; Hofmann, Bjørn; Lie, Rolv T; Norderhaug, Inger Natvig; Romundstad, Pål; Sæterdal, Ingvil von Mehren; Ørstavik, Karen Helene; Tanbo, Tom Gunnar.
Mannlig infertilitet: Intracytoplasmatisk spermieinjeksjon (ICSI) med spermier uthentet fra bitestikkel eller testikkel. Oslo: Nasjonalt kunnskapssenter for helsetjenesten 2007 (ISBN 978-82-8121-148-3) 69 p. Rapport fra Kunnskapssenteret(7/2007)
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18 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.
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics 2007 ;Volume 80.
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19 Knudsen, Gun Peggy Strømstad; Pedersen, June; Klingenberg, O; Lygren, I; Ørstavik, Karen Helene.
Increased skewing of X chromosome inactivation with age in both blood and buccal cells. Cytogenetic and Genome Research 2007 ;Volume 116. p. 24-28
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20 Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter; Lazarou, Lazarous P; Rosser, Lyndon G; Prescott, Trine; Houge, Gunnar.
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 2007 ;Volume 143.(13) p. 1510-1513
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21 Ørstavik, Karen Helene; Tangeraas, Trine; Molven, Anders; Prescott, Trine E..
Distal phalangeal creases - A distinctive dysmorphic feature in disorders of the RAS signalling pathway?. European Journal of Medical Genetics 2007 ;Volume 50.(2) p. 155-158
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2006
22 Ørstavik, Karen Helene.
Skewed X inactivation in healthy individuals and in different diseases. Acta Paediatrica 2006 ;Volume 95. p. 24-29
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23 Knudsen, Gun Peggy Strømstad; Neilson, TC; Pedersen, June; Kerr, A; Schwartz, Marianne; Hulten, M; Bailey, ME; Ørstavik, Karen Helene.
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. European Journal of Human Genetics 2006 ;Volume 14.(11) p. 1189-1194
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24 Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, K; Vege, Åshild; Eiklid, Kristin Louise; Abrahamsen, Tore G; Smahi, Asma; Steen-Johnsen, Jon.
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. American Journal of Medical Genetics 2006 ;Volume 140.(1) p. 31-39
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2005
25 Brix, TH; Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne; Kyvik, KO; Ørstavik, Karen Helene; Hegedüs, L.
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 2005 ;Volume 90. p. 5949-5953
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26 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.
Dimentional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European Journal of Human Genetics 2005 ;Volume 13. p. 1121-1130
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27 Fritz, B; Kunz, J; Knudsen, Gun Peggy Strømstad; Louwen, F; Kennerknecht, I; Eiben, B; Ørstavik, Karen Helene; Friedrich, U; Rehder, H.
Situs ambiguus in a female fetus with balanced (X;21) translocation - evidence for functional nullisomy of the ZIC3 gene?. European Journal of Human Genetics 2005 ;Volume 13. p. 34-40
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28 Grogan, PM; Tanner, SM; Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Saperstein, DS; Vogel, H; Barohn, RJ; Herbelin, LL; McVey, AL; Katz, JS.
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. Neurology 2005 ;Volume 64. p. 1638-1640
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29 Kringen, Marianne Kristiansen; Knudsen, Gun Peggy Strømstad; Bathum, L; Naumova, AK; Sorensen, TIA; Brix, TH; Svendsen, AJ; Christensen, K; Kyvik, KO; Ørstavik, Karen Helene.
Twin study of genetic and aging effects on X chromosome inactivation. European Journal of Human Genetics 2005 ;Volume 13.
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30 Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Maguire, P.; Margolin, S; Pedersen, June; Lindblom, A; Ørstavik, Karen Helene.
High incidence og skewed X chromosome inactivation in young patients with familial non-BRACA1/BRACA2 breast cancer. Journal of Medical Genetics 2005 ;Volume 42. p. 877-880
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31 Lie, Rolv Terje; Lyngstadaas, A; Ørstavik, Karen Helene; Bakketeig, Leiv S.; Jacobsen, Geir; Tanbo, Tom.
Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis. International Journal of Epidemiology 2005 ;Volume 34.(3) p. 696-701
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2004
32 Knudsen, Gun Peggy Strømstad; Kristiansen, Marianne; Ørstavik, Karen Helene.
Genetic effect on X chromosome inactivation: A study of young and elderly twins. 11th International Congress on Twin Studies; 2004-07-01 - 2004-07-04
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33 Knudsen, Gun Peggy Strømstad; Pedersen, June; Lygren, Idar; Ørstavik, Karen Helene.
Variation of X inactivation pattern in different tissues in women aged 19-90 years. European Human Genetics conference; 2004-06-12 - 2004-06-15
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34 Knudsen, Gun Peggy Strømstad; Pedersen, June; Thorstensen, L.; Løvig, T; Lothe, Ragnhild A; Meling, G.I; Ørstavik, Karen Helene.
X chromosome inactivation in blood and tumor from females with colorectal cancer. 54th American Society of Human Genetics; 2004-10-26 - 2004-10-30
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35 Knudsen, Gun Peggy Strømstad; Ørstavik, Karen Helene.
No difference in CAG repeat length of the androgen receptor gene between nonagenerian and centenarian males and a younger control population. 2nd Congress on the functional genomics of aging; 2004-04-28 - 2004-05-01
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36 Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Maguire, P.; Pedersen, June; Lindblom, A; Ørstavik, Karen Helene.
High incidence of skewed X inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer. 54th American Society of Human Genetics; 2004-10-26 - 2004-10-30
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37 Meling, TR; Ørstavik, Karen Helene; Heiberg, Arvid.
Komplekse kraniofaciale synostoser. Tidsskrift for Den norske legeforening 2004 ;Volume 124. p. 1230-1234
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38 Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad.
Age-related skewing of X chromosome inactivation is not a stochastic process. European Human Genetics conference; 2004-06-12 - 2004-06-15
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39 Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad.
X chromosome inactivation and advanced age. 2nd congress on the functional genomics of aging; 2004-04-28 - 2004-05-01
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40 Ørstavik, Karen Helene; Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Storhaug, K; Vege, Åshild; Eiklid, Kristin; Abrahamsen, Tore G; Smahi, Asma; Steen-Johnsen, Jon.
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. 11th Manchester Birth Defects Conference; 2004-11-09 - 2004-11-12
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41 Meling, Torstein Ragnar; Ørstavik, Karen Helene; Heiberg, Arvid.
Complex craniofacial synostosis.. Tidsskrift for Den norske legeforening 2004 ;Volume 124. p. 1230-1234
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2003
42 Jungbluth, H; Sewry, CA; Buj-Bello, A; Kristiansen, Marianne; Ørstavik, Karen Helene.
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscular Disorders 2003 ;Volume 13. p. 55-59
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43 Kristiansen, Marianne; Helland, Åslaug; Kristensen, Gunnar; Olsen, Anne; Lønning, Per Eystein; Børresen-Dale, Anne-Lise; Ørstavik, Karen Helene.
X chromosome inactivation in cervical cancer patients. Cancer Genetics and Cytogenetics 2003 ;Volume 146. p. 73-76
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44 Kristiansen, Marianne; Knudsen, Gun Peggy Strømstad; Tanner, SM; Robinson, D; MCEntagart, M; Liechti-Gallati, S; Ørstavik, Karen Helene; Wallgren-Pettersson, C.
X inactivation pattern in carriers of X-linked myotubular myopathy. Neuromuscular Disorders 2003 ;Volume 13. p. 468-471
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45 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.
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics 2003 ;Volume 33. p. 487-491
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46 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.
Localised mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. European Human Genetics conference; 2003-05-03
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47 Rootwelt, T; Helbig, A; Ørstavik, Karen Helene; Kvittingen, Eli Anne.
Severe malformations in sibs with complex I deficiency. International Congress of Inborn Errors of Metabolism; 2003-09-02 - 2003-09-06
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48 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.
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 2003 ;Volume 100.(14) p. 8418-8423
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49 Van der hagen, CB; Eiklid, Kristin; Ørstavik, Karen Helene.
Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental dicomy 9 in the child. European Human Genetics conference 2003; 2003-05-03
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50 Ørstavik, Karen Helene.
Intracytoplasmatisk spermieinjeksjon og medfødte syndromer som skyldes imprintingsfeil. Tidsskrift for Den norske legeforening 2003 ;Volume 123. p. 177-
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