Publication list - Publika - Scientific publications from Oslo University Hospital

Publications by Kristin Louise Eiklid

49 publications found

Original articles

Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A (2023)
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071

Hellstrøm T, Andelic N, Holthe ØØ, Helseth E, Server A, Eiklid K, Sigurdardottir S (2022)
APOE-ε4 Is Associated With Reduced Verbal Memory Performance and Higher Emotional, Cognitive, and Everyday Executive Function Symptoms Two Months After Mild Traumatic Brain Injury
Front Neurol, 13, 735206
DOI 10.3389/fneur.2022.735206, PubMed 35250800

Hellstrøm T, Andelic N, de Lange AG, Helseth E, Eiklid K, Westlye LT (2021)
Apolipoprotein ɛ4 Status and Brain Structure 12 Months after Mild Traumatic Injury: Brain Age Prediction Using Brain Morphometry and Diffusion Tensor Imaging
J Clin Med, 10 (3)
DOI 10.3390/jcm10030418, PubMed 33499167

Holm I, Spildrejorde M, Stadheim B, Eiklid KL, Samarakoon PS (2017)
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
Gene, 624, 50-55
DOI 10.1016/j.gene.2017.04.030, PubMed 28456592

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827

Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A (2014)
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
Heart, 100 (22), 1793-8
DOI 10.1136/heartjnl-2014-305616, PubMed 25031264

Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN (2013)
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
PLoS One, 8 (9), e75770
DOI 10.1371/journal.pone.0075770, PubMed 24086631

Sorte HS, Gjevik E, Sponheim E, Eiklid KL, Rødningen OK (2013)
Copy number variation findings among 50 children and adolescents with autism spectrum disorder
Psychiatr Genet, 23 (2), 61-9
DOI 10.1097/YPG.0b013e32835d718b, PubMed 23277134

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL (2013)
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
DOI 10.1016/j.gene.2013.01.029, PubMed 23370340

Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL (2013)
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620

Möller T, Leren TP, Eiklid KL, Holmstrøm H, Fredriksen PM, Thaulow E (2010)
A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects
Scand Cardiovasc J, 44 (6), 331-6
DOI 10.3109/14017431.2010.525747, PubMed 21070126

Bodd TL, Van Ghelue M, Eiklid K, Ruud E, Møller P, Mæhle L (2010)
Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report
Acta Paediatr, 99 (11), 1741-3
DOI 10.1111/j.1651-2227.2010.01929.x, PubMed 20608899

Wagle J, Farner L, Flekkøy K, Wyller TB, Sandvik L, Eiklid KL, Fure B, Stensrød B, Engedal K (2010)
Cognitive impairment and the role of the ApoE epsilon4-allele after stroke--a 13 months follow-up study
Int J Geriatr Psychiatry, 25 (8), 833-42
DOI 10.1002/gps.2425, PubMed 19960482

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G (2010)
[Determination of chromosome aberrations with the help of DNA arrays]
Tidsskr Nor Laegeforen, 130 (9), 944-7
DOI 10.4045/tidsskr.10.0101, PubMed 20453958

Lima K, Følling I, Eiklid KL, Natvig S, Abrahamsen TG (2010)
Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome
Eur J Pediatr, 169 (8), 983-9
DOI 10.1007/s00431-010-1161-3, PubMed 20186429

Wagle J, Farner L, Flekkøy K, Wyller TB, Sandvik L, Eiklid KL, Fure B, Stensrød B, Engedal K (2009)
Association between ApoE epsilon4 and cognitive impairment after stroke
Dement Geriatr Cogn Disord, 27 (6), 525-33
DOI 10.1159/000223230, PubMed 19494491

Nakken KE, Labori KJ, Rødningen OK, Nakken S, Berge KE, Eiklid K, Raeder MG (2008)
ABCB4 sequence variations in young adults with cholesterol gallstone disease
Liver Int, 29 (5), 743-7
DOI 10.1111/j.1478-3231.2008.01914.x, PubMed 19018976

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE et al. (2008)
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Am J Hum Genet, 82 (4), 1003-10
DOI 10.1016/j.ajhg.2008.01.013, PubMed 18342287

Erichsen AK, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen CM (2007)
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
Eur J Neurol, 14 (7), 809-14
DOI 10.1111/j.1468-1331.2007.01861.x, PubMed 17594340

Munthe-Kaas MC, Lødrup Carlsen KC, Carlsen KH, Skinningsrud B, Håland G, Devulapalli CS, Pettersen M, Eiklid K (2006)
CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study
Respir Med, 100 (12), 2121-8
DOI 10.1016/j.rmed.2006.03.026, PubMed 16678395

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

Gustavsen WR, Eiklid K (2003)
[Hereditary cerebral arteriopathy]
Tidsskr Nor Laegeforen, 123 (21), 3045-6
PubMed 14618173

Eggesbø HB, Søvik S, Dølvik S, Eiklid K, Kolmannskog F (2003)
Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis
Eur Radiol, 13 (6), 1451-60
DOI 10.1007/s00330-003-1825-8, PubMed 12682781

Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Königsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull L, Ellemunter H (2003)
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
J Pediatr, 142 (4), 441-7
DOI 10.1067/mpd.2003.148, PubMed 12712065

Eggesbø HB, Søvik S, Dølvik S, Eiklid K, Kolmannskog F (2001)
CT characterization of developmental variations of the paranasal sinuses in cystic fibrosis
Acta Radiol, 42 (5), 482-93
DOI 10.1080/028418501127347214, PubMed 11552886

Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB (2000)
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q
Am J Hum Genet, 67 (4), 994-9
DOI 10.1086/303080, PubMed 10968776

Eggesbø HB, Eken T, Eiklid K, Kolmannskog F (1999)
Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis
Acta Radiol, 40 (5), 479-85
DOI 10.3109/02841859909175571, PubMed 10485235

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

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

Schwartz M, Anvret M, Claustres M, Eiken HG, Eiklid K, Schaedel C, Stolpe L, Tranebjaerg L (1994)
394delTT: a Nordic cystic fibrosis mutation
Hum Genet, 93 (2), 157-61
DOI 10.1007/BF00210602, PubMed 7509310

Eiklid K, Tranebjaerg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D (1993)
Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients
Clin Genet, 44 (1), 12-4
DOI 10.1111/j.1399-0004.1993.tb03834.x, PubMed 7691448

Eiklid K, Olsnes S (1983)
Entry of Shigella dysenteriae toxin into HeLa cells
Infect Immun, 42 (2), 771-7
DOI 10.1128/iai.42.2.771-777.1983, PubMed 6358031

Eiklid K, Olsnes S (1983)
Animal toxicity of Shigella dysenteriae cytotoxin: evidence that the neurotoxic, enterotoxic, and cytotoxic activities are due to one toxin
J Immunol, 130 (1), 380-4
PubMed 6336624

Olsnes S, Reisbig R, Eiklid K (1981)
Subunit structure of Shigella cytotoxin
J Biol Chem, 256 (16), 8732-8
PubMed 7021550

Reisbig R, Olsnes S, Eiklid K (1981)
The cytotoxic activity of Shigella toxin. Evidence for catalytic inactivation of the 60 S ribosomal subunit
J Biol Chem, 256 (16), 8739-44
PubMed 6894922

Eiklid K, Olsnes S, Pihl A (1980)
Entry of lethal doses of abrin, ricin and modeccin into the cytosol of HeLa cells
Exp Cell Res, 126 (2), 321-6
DOI 10.1016/0014-4827(80)90270-0, PubMed 7363949

Olsnes S, Eiklid K (1980)
Isolation and characterization of Shigella shigae cytotoxin
J Biol Chem, 255 (1), 284-9
PubMed 7350160

Eiklid K, Olsnes S (1980)
Interaction of Shigella shigae cytotoxin with receptors on sensitive and insensitive cells
J Recept Res, 1 (2), 199-213
DOI 10.3109/10799898009044098, PubMed 6895387

Bohmer T, Bergrem H, Eiklid K (1978)
Carnitine deficiency induced during intermittent haemodialysis for renal failure
Lancet, 1 (8056), 126-8
DOI 10.1016/s0140-6736(78)90422-1, PubMed 87556

Olsnes S, Sandvig K, Eiklid K, Pihl A (1978)
Properties and action mechanism of the toxic lectin modeccin: interaction with cell lines resistant to modeccin, abrin, and ricin
J Supramol Struct, 9 (1), 15-25
DOI 10.1002/jss.400090103, PubMed 732310

Molstad P, Bohmer T, Eiklid K (1977)
Specificity and characteristics of the carnitine transport in human heart cells (CCL 27) in culture
Biochim Biophys Acta, 471 (2), 296-304
DOI 10.1016/0005-2736(77)90257-7, PubMed 921982

Böhmer T, Eiklid K, Jonsen J (1977)
Carnitine uptake into human heart cells in culture
Biochim Biophys Acta, 465 (3), 627-33
DOI 10.1016/0005-2736(77)90278-4, PubMed 836841

BOHMER T, BERGREM H, EIKLID K (1977)
CARNITINE DEFICIENCY INDUCED DURING INTERMITTENT HEMODIALYSIS FOR RENAL-FAILURE
Lancet, 1 (8056), 127-128

Review articles

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH (2011)
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
Orphanet J Rare Dis, 6, 58
DOI 10.1186/1750-1172-6-58, PubMed 21878110