Kristin Louise Eiklid

  • Senior Researcher PhD
  • +47 221 19876 / 928 50 645

Publications 2017

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

Publications 2015

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

Publications 2014

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

Publications 2013

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

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

Publications 2011

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

Publications 2010

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

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

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

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

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

Publications 2009

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

Publications 2008

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

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

Publications 2007

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

Publications 2006

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

Publications 2003

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

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

Ørstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K (2003)
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection
Am J Hum Genet, 72 (1), 218-9
DOI 10.1086/346030, PubMed 12549484

Publications 2001

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 10.1034/j.1600-0455.2001.420509.x, PubMed 11552886

Publications 2000

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

Publications 1999

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

Publications 1996

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

Publications 1995

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

Publications 1994

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
PubMed 7509310

Publications 1993

Eiklid K, Leren TP (1993)
[Genotyping of apolipoprotein E]
Tidsskr Nor Laegeforen, 113 (15), 1885
PubMed 8322337

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
PubMed 7691448

Publications 1983

Eiklid K, Olsnes S (1983)
Entry of Shigella dysenteriae toxin into HeLa cells
Infect Immun, 42 (2), 771-7
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

Publications 1981

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

Publications 1980

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

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

Publications 1978

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

Publications 1977

Lancet, 1 (8056), 127-128

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

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

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