Publication list - Publika - Scientific publications from Oslo University Hospital

Publications by Karen Helene Ørstavik

104 publications found

Original articles

Mengel-From J, Lindahl-Jacobsen R, Nygaard M, Soerensen M, Ørstavik KH, Hertz JM, Andersen-Ranberg K, Tan Q, Christensen K (2021)
Skewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women
Sci Rep, 11 (1), 4326
DOI 10.1038/s41598-021-83702-2, PubMed 33619309

Ørstavik KH (2017)
Why are autoimmune diseases more prevalent in women?
Tidsskr Nor Laegeforen, 137 (12-13), 866-868
DOI 10.4045/tidsskr.16.0935, PubMed 28655225

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M (2015)
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies
Hum Mutat, 36 (6), 593-8
DOI 10.1002/humu.22795, PubMed 25824905

Monclair T, Lundar T, Smevik B, Holm I, Ørstavik KH (2013)
Currarino syndrome at Rikshospitalet 1961-2012
Tidsskr Nor Laegeforen, 133 (22), 2364-8
DOI 10.4045/tidsskr.13.0352, PubMed 24287836

Renault NK, Pritchett SM, Howell RE, Greer WL, Sapienza C, Ørstavik KH, Hamilton DC (2013)
Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice
Eur J Hum Genet, 21 (12), 1396-402
DOI 10.1038/ejhg.2013.84, PubMed 23652377

Mengel-From J, Thinggaard M, Christiansen L, Vaupel JW, Orstavik KH, Christensen K (2011)
Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
Eur J Hum Genet, 20 (3), 361-4
DOI 10.1038/ejhg.2011.215, PubMed 22146940

Brix TH, Hansen PS, Bennedbak FN, Bonnema SJ, Kyvik KO, Ørstavik KH, Hegedüs L (2009)
X Chromosome inactivation pattern is not associated with interindividual variations in thyroid volume: a study of euthyroid Danish female twins
Twin Res Hum Genet, 12 (5), 502-6
DOI 10.1375/twin.12.5.502, PubMed 19803777

Brix TH, Hansen PS, Knudsen GP, Kringen MK, Kyvik KO, Orstavik KH, Hegedüs L (2009)
No link between X chromosome inactivation pattern and simple goiter in females: evidence from a twin study
Thyroid, 19 (2), 165-9
DOI 10.1089/thy.2008.0380, PubMed 19191747

Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, 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
Am J Med Genet A, 149A (2), 147-54
DOI 10.1002/ajmg.a.32534, PubMed 19133692

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G (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
Eur J Hum Genet, 17 (7), 904-10
DOI 10.1038/ejhg.2008.261, PubMed 19156171

Knudsen GP, Harbo HF, Smestad C, Celius EG, Akesson E, Oturai A, Ryder LP, Spurkland A, Ørstavik KH (2007)
X chromosome inactivation in females with multiple sclerosis
Eur J Neurol, 14 (12), 1392-6
DOI 10.1111/j.1468-1331.2007.01987.x, PubMed 17970735

Ørstavik KH, Knudsen GP, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G (2007)
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Am J Med Genet A, 143A (13), 1510-3
DOI 10.1002/ajmg.a.31797, PubMed 17568423

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO (2007)
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Am J Hum Genet, 80 (6), 1162-70
DOI 10.1086/518047, PubMed 17503333

Knudsen GP, Pedersen J, Klingenberg O, Lygren I, Ørstavik KH (2007)
Increased skewing of X chromosome inactivation with age in both blood and buccal cells
Cytogenet Genome Res, 116 (1-2), 24-8
DOI 10.1159/000097414, PubMed 17268174

Ørstavik KH, Tangeraas T, Molven A, Prescott TE (2007)
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Eur J Med Genet, 50 (2), 155-8
DOI 10.1016/j.ejmg.2006.12.003, PubMed 17324647

Knudsen GP, Neilson TC, Pedersen J, Kerr A, Schwartz M, Hulten M, Bailey ME, Orstavik KH (2006)
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
Eur J Hum Genet, 14 (11), 1189-94
DOI 10.1038/sj.ejhg.5201682, PubMed 16823396

Ørstavik KH (2006)
Skewed X inactivation in healthy individuals and in different diseases
Acta Paediatr Suppl, 95 (451), 24-9
DOI 10.1080/08035320600618783, PubMed 16720461

Ørstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J (2006)
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
Am J Med Genet A, 140 (1), 31-9
DOI 10.1002/ajmg.a.31026, PubMed 16333836

Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME (2005)
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome
Eur J Hum Genet, 13 (10), 1121-30
DOI 10.1038/sj.ejhg.5201471, PubMed 16077736

Brix TH, Knudsen GP, Kristiansen M, Kyvik KO, Orstavik KH, 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
J Clin Endocrinol Metab, 90 (11), 5949-53
DOI 10.1210/jc.2005-1366, PubMed 16105963

Grogan PM, Tanner SM, Ørstavik KH, Knudsen GP, 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, 64 (9), 1638-40
DOI 10.1212/01.WNL.0000160393.99621.D0, PubMed 15883335

Kristiansen M, Knudsen GP, Maguire P, Margolin S, Pedersen J, Lindblom A, Ørstavik KH (2005)
High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer
J Med Genet, 42 (11), 877-80
DOI 10.1136/jmg.2005.032433, PubMed 15879497

Kristiansen M, Knudsen GP, Bathum L, Naumova AK, Sørensen TI, Brix TH, Svendsen AJ, Christensen K, Kyvik KO, Ørstavik KH (2005)
Twin study of genetic and aging effects on X chromosome inactivation
Eur J Hum Genet, 13 (5), 599-606
DOI 10.1038/sj.ejhg.5201398, PubMed 15756296

Fritz B, Kunz J, Knudsen GP, Louwen F, Kennerknecht I, Eiben B, Orstavik KH, Friedrich U, Rehder H (2005)
Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?
Eur J Hum Genet, 13 (1), 34-40
DOI 10.1038/sj.ejhg.5201213, PubMed 15470371

Lie RT, Lyngstadaas A, Ørstavik KH, Bakketeig LS, Jacobsen G, Tanbo T (2004)
Birth defects in children conceived by ICSI compared with children conceived by other IVF-methods; a meta-analysis
Int J Epidemiol, 34 (3), 696-701
DOI 10.1093/ije/dyh363, PubMed 15561745

Schmelz M, Hilliges M, Schmidt R, Ørstavik K, Vahlquist C, Weidner C, Handwerker HO, Torebjörk HE (2003)
Active "itch fibers" in chronic pruritus
Neurology, 61 (4), 564-6
DOI 10.1212/01.wnl.0000078193.64949.08, PubMed 12939442

Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Ørstavik KH, Wallgren-Pettersson C (2003)
X-inactivation patterns in carriers of X-linked myotubular myopathy
Neuromuscul Disord, 13 (6), 468-71
DOI 10.1016/s0960-8966(03)00067-1, PubMed 12899873

Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F (2003)
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
Neuromuscul Disord, 13 (1), 55-9
DOI 10.1016/s0960-8966(02)00194-3, PubMed 12467733

Kristiansen M, Langerød A, Knudsen GP, Weber BL, Børresen-Dale AL, Orstavik KH (2002)
High frequency of skewed X inactivation in young breast cancer patients
J Med Genet, 39 (1), 30-3
DOI 10.1136/jmg.39.1.30, PubMed 11826021

Christensen K, Orstavik KH, Vaupel JW (2001)
The X chromosome and the female survival advantage: an example of the intersection between genetics, epidemiology and demography
Ann N Y Acad Sci, 954, 175-83
PubMed 11797856

Ørstavik K, Skard Heier M, Young P, Stögbauer F (2001)
Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies
Muscle Nerve, 24 (8), 1093-6
DOI 10.1002/mus.1116, PubMed 11439387

Ørstavik KH, Apold J (2001)
[Gene therapy for monogenic inherited diseases]
Tidsskr Nor Laegeforen, 121 (3), 349-50
PubMed 11242881

Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M et al. (2000)
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
Am J Hum Genet, 68 (1), 81-91
DOI 10.1086/316926, PubMed 11112658

Christensen K, Kristiansen M, Hagen-Larsen H, Skytthe A, Bathum L, Jeune B, Andersen-Ranberg K, Vaupel JW, Orstavik KH (2000)
X-linked genetic factors regulate hematopoietic stem-cell kinetics in females
Blood, 95 (7), 2449-51
DOI 10.1182/blood.V95.7.2449.007k06_2449_2451, PubMed 10733522

Christensen B, Blaas HG, Isaksen CV, Roald B, Orstavik KH (2000)
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome?
Am J Med Genet, 91 (3), 231-4
DOI 10.1002/(sici)1096-8628(20000320)91:3<231::aid-ajmg15>3.0.co;2-w, PubMed 10756349

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000)
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
Am J Hum Genet, 66 (4), 1407-12
DOI 10.1086/302869, PubMed 10739764

Orstavik KH, Scheibel E, Ingerslev J, Schwartz M (2000)
Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B
Thromb Haemost, 83 (3), 433-7
PubMed 10744150

Orstavik KH (1999)
[X-chromosome inactivation--a biological phenomenon of clinical significance for women]
Lakartidningen, 96 (50), 5649-52
PubMed 10643233

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S (1999)
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
Hum Genet, 104 (3), 249-53
DOI 10.1007/s004390050943, PubMed 10323249

Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T (1998)
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
Nat Genet, 20 (4), 358-61
DOI 10.1038/3828, PubMed 9843207

Orstavik KH, Orstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D (1998)
X chromosome inactivation in carriers of Barth syndrome
Am J Hum Genet, 63 (5), 1457-63
DOI 10.1086/302095, PubMed 9792874

Fritz B, Küster W, Orstavik KH, Naumova A, Spranger J, Rehder H (1998)
Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp
Hum Genet, 103 (4), 441-9
DOI 10.1007/s004390050848, PubMed 9856488

Orstavik KH, Tangsrud SE, Nordshus T, Lange JE, Renolen O, Lyberg T (1998)
Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?
Am J Med Genet, 78 (3), 260-2
DOI 10.1002/(sici)1096-8628(19980707)78:3<260::aid-ajmg10>3.0.co;2-d, PubMed 9677062

Weidle B, Orstavik KH (1998)
[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development]
Tidsskr Nor Laegeforen, 118 (10), 1556-8
PubMed 9615582

Orstavik KH, Bechensteen AG, Fugelseth D, Orderud W (1998)
Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations
Am J Med Genet, 75 (3), 300-3
DOI 10.1002/(SICI)1096-8628(19980123)75:3<300::AID-AJMG15>3.3.CO;2-B, PubMed 9475602

Orstavik KH, Strømme P, Ek J, Torvik A, Skjeldal OH (1997)
Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
J Med Genet, 34 (10), 849-51
DOI 10.1136/jmg.34.10.849, PubMed 9350820

D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH, Patton MA, Green AJ, Zammarchi E, Donati MA, Toniolo D (1997)
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
Am J Hum Genet, 61 (4), 862-7
DOI 10.1086/514886, PubMed 9382096

Orstavik K, Ro H, Orstavik KH (1997)
Recurrent brachial plexus neuropathy in a family with subtle dysmorphic features -- a case of hereditary neuralgic amyotrophy
Clin Genet, 51 (6), 421-5
DOI 10.1111/j.1399-0004.1997.tb02503.x, PubMed 9237508

Orstavik KH (1997)
[Mental retardation. Progress in the search of causes means new challenge for the clinician]
Tidsskr Nor Laegeforen, 117 (10), 1438
PubMed 9198916

Orstavik KH, Orstavik RE, Halse J, Knudtzon J (1996)
X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets
J Med Genet, 33 (8), 700-3
DOI 10.1136/jmg.33.8.700, PubMed 8863165

Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L (1996)
Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
Am J Med Genet, 64 (1), 31-4
DOI 10.1002/(SICI)1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U, PubMed 8826445

Schwartz M, Békássy A, Donnér M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Orstavik KH, Skovby F (1996)
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene
Thromb Haemost, 75 (4), 546-50
PubMed 8743175

Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH (1996)
Unilateral cleft lip in a boy with Angelman syndrome
J Craniofac Genet Dev Biol, 16 (2), 122-5
PubMed 8773903

Orstavik KH, Strömme P, Spetalen S, Flage T, Westvik J, Vesterhus P, Skjeldal O (1995)
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?
Am J Med Genet, 59 (1), 92-5
DOI 10.1002/ajmg.1320590118, PubMed 8849019

Orstavik RE, Tommerup N, Eiklid K, Orstavik KH (1995)
Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome
Am J Med Genet, 56 (2), 210-4
DOI 10.1002/ajmg.1320560219, PubMed 7625447

Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994)
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
Nat Genet, 8 (1), 52-8
DOI 10.1038/ng0994-52, PubMed 7987392

Orstavik KH, Skjörten F, Hellebostad M, Hågå P, Langslet A (1993)
Possible X linked congenital mitochondrial cardiomyopathy in three families
J Med Genet, 30 (4), 269-72
DOI 10.1136/jmg.30.4.269, PubMed 8487269

Steen J, Lindemann R, Orstavik KH (1993)
[Hereditary diseases and abnormalities as cause of death during the first 2 years of life among 7 groups of Oslo children. A comparison between Norwegian and Pakistani children]
Tidsskr Nor Laegeforen, 113 (3), 334-6
PubMed 8441981

Orstavik KH, Tangsrud SE, Kiil R, Hansteen IL, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Bröndum-Nielsen K (1992)
Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13
Am J Med Genet, 44 (4), 534-8
DOI 10.1002/ajmg.1320440431, PubMed 1442901

Orstavik KH, Tangsrud SE, Nordshus T, Finnanger AM, Hellum C, Gjessing E (1992)
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis
J Med Genet, 29 (11), 827-30
DOI 10.1136/jmg.29.11.827, PubMed 1453437

Orstavik KH, Steen-Johnsen J, Foerster A, Fjeld T, Skullerud K, Lie SO (1992)
VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?
Am J Med Genet, 43 (6), 1035-8
DOI 10.1002/ajmg.1320430625, PubMed 1415331

Orstavik KH, Lindemann R, Solberg LA, Foerster A, Sørland SJ (1992)
Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother
Clin Genet, 42 (1), 19-21
DOI 10.1111/j.1399-0004.1992.tb03129.x, PubMed 1516223

Orstavik KH, Kloster R, Lippestad C, Rode L, Hovig T, Fuglseth KN (1990)
Emery-Dreifuss syndrome in three generations of females, including identical twins
Clin Genet, 38 (6), 447-51
DOI 10.1111/j.1399-0004.1990.tb03611.x, PubMed 2289317

Orstavik KH, Medbø S, Mair IW (1990)
Right-sided microtia and conductive hearing loss with variable expressivity in three generations
Clin Genet, 38 (2), 117-20
DOI 10.1111/j.1399-0004.1990.tb03558.x, PubMed 2208762

Orstavik KH (1990)
Genetics of plasma concentration of von Willebrand factor
Folia Haematol Int Mag Klin Morphol Blutforsch, 117 (4), 527-31
PubMed 1714855

Orstavik KH (1990)
Inhibitors to factor IX contain all IgG subclasses except IgG3
Folia Haematol Int Mag Klin Morphol Blutforsch, 117 (4), 545-8
PubMed 1714858

Orstavik KH, Kornstad L, Reisner H, Berg K (1989)
Possible effect of secretor locus on plasma concentration of factor VIII and von Willebrand factor
Blood, 73 (4), 990-3
PubMed 2493271

Orstavik KH, Miller CH (1988)
IgG subclass identification of inhibitors to factor IX in haemophilia B patients
Br J Haematol, 68 (4), 451-4
DOI 10.1111/j.1365-2141.1988.tb04234.x, PubMed 3377985

Miller CH, Orstavik KH, Hilgartner MW (1985)
Characterization of an occult inhibitor to factor IX in a haemophilia B patient
Br J Haematol, 61 (2), 329-38
DOI 10.1111/j.1365-2141.1985.tb02833.x, PubMed 4041376

Orstavik KH, Stormorken H, Sparr T (1985)
Hemophilia BM in a female
Thromb Res, 37 (5), 561-6
DOI 10.1016/0049-3848(85)90088-x, PubMed 3983911

Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W (1985)
Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level
Am J Hum Genet, 37 (1), 89-101
PubMed 3919575

Orstavik KH (1981)
Factor IX alloantibodies shorten the bovine thromboplastin coagulation time of normal human plasma
Thromb Haemost, 46 (4), 684-6
PubMed 7330818

Orstavik KH (1981)
Alloantibodies to factor IX in Haemophilia B characterized by crossed immunoelectrophoresis and enzyme-conjugated antisera to human immunoglobulins
Br J Haematol, 48 (1), 15-23
PubMed 6788066

Orstavik KH, Orstavik I (1981)
Enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies to factor IX in hemophilia B
Thromb Res, 22 (3), 253-7
DOI 10.1016/0049-3848(81)90117-1, PubMed 7302899

Orstavik KH, Veltkamp JJ, Bertina RM, Hermans J (1979)
Detection of carriers of haemophilia B
Br J Haematol, 42 (2), 293-301
DOI 10.1111/j.1365-2141.1979.tb01133.x, PubMed 465373

Orstavik KH (1979)
Electroimmunoassay of factor IX antigen: increased sensitivity by enzyme amplification of immunoprecipitates
Thromb Res, 15 (5-6), 721-6
DOI 10.1016/0049-3848(79)90181-6, PubMed 386558

Ly B, Solum NO, Vennerød AM, Dahl O, Hagen I, Orstavik KH (1978)
A syndrome of factor VII deficiency and abnormal platelet release reaction
Scand J Haematol, 21 (3), 206-14
DOI 10.1111/j.1600-0609.1978.tb00355.x, PubMed 715373

Orstavik KH, Laake K (1978)
Factor IX in warfarin treated patients
Thromb Res, 13 (2), 207-18
DOI 10.1016/0049-3848(78)90009-9, PubMed 694840

Orstavik KH, Nilsson IM (1978)
A study of acquired inhibitors of factor IX by means of precipitating rabbit antisera against factor IX
Thromb Res, 12 (5), 863-74
DOI 10.1016/0049-3848(78)90280-3, PubMed 97801

Orstavik KH, Laake K (1978)
Antiserum against factor IX shortens the bovine thromboplastin coagulation time of human plasma
Thromb Res, 12 (3), 455-65
DOI 10.1016/0049-3848(78)90316-x, PubMed 653636

Holmberg L, Nilsson IM, Henriksson P, Orstavik KH (1978)
Homozygous expression of haemophilia B in a heterozygote
Acta Med Scand, 204 (3), 231-4
DOI 10.1111/j.0954-6820.1978.tb08429.x, PubMed 696423

Vennerod AM, Orstavik KH, Laake K, Fagerhol M, Ly B (1977)
Purification of human factor IX
Thromb Res, 11 (5), 663-72
DOI 10.1016/0049-3848(77)90024-x, PubMed 929514

Orstavik KH, Vennerod AM, Laake K (1977)
Studies of human factor IX by a high-titred sheep antiserum against factor IX
Thromb Res, 11 (5), 653-62
DOI 10.1016/0049-3848(77)90023-8, PubMed 412271

Orstavik KH (1977)
Comparison of precipitating antisera against normal and abnormal factor IX
Thromb Res, 10 (5), 731-41
DOI 10.1016/0049-3848(77)90055-x, PubMed 407667

Orstavik KH (1975)
[Social medicine aspects of genetic counseling]
Tidsskr Nor Laegeforen, 95 (29), 1631-2
PubMed 1188854

Orstavik KH, Osterud B, Prydz H, Berg K (1975)
Electroimmunoassay of factor IX in hemophilia B
Thromb Res, 7 (3), 373-82
DOI 10.1016/0049-3848(75)90031-6, PubMed 1188839

Review articles

Orstavik KH (2009)
X chromosome inactivation in clinical practice
Hum Genet, 126 (3), 363-73
DOI 10.1007/s00439-009-0670-5, PubMed 19396465

Ørstavik KH (2008)
[Genetic causes of male infertility]
Tidsskr Nor Laegeforen, 128 (3), 324-6
PubMed 18264159

Meling TR, Ørstavik KH, Heiberg A (2004)
[Complex craniofacial synostoses]
Tidsskr Nor Laegeforen, 124 (9), 1230-4
PubMed 15131704

Orstavik KH (1999)
[X chromosome inactivation--a biological phenomenon of clinical significance for women]
Tidsskr Nor Laegeforen, 119 (7), 972-5
PubMed 10210959

Orstavik KH (1999)
[Genomic imprinting and hereditary diseases]
Tidsskr Nor Laegeforen, 119 (6), 835-8
PubMed 10101947