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Livres
Articles (37)
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Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1

Heimdal, K., Dalhus, B., Rødningen, O.K., Kroken, M., Eiklid, K., Dheyauldeen, S., Røysland, T., Andersen, R., Kulseth, M.A.

Journal:

Clinical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 426 KB

english, 2015

Properties and action mechanism of the toxic lectin modeccin: Interaction with cell lines resistant to modeccin, abrin, and ricin

Sjur Olsnes, Kirsten Sandvig, Kristin Eiklid, Alexander Pihl

Journal:

Journal of Cellular Biochemistry

Année:

1978

Langue:

english

Fichier:

PDF, 604 KB

english, 1978

Two new Rett syndrome families and review of the literature: expanding the knowledge ofMECP2frameshift mutations

Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjeldal

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 338 KB

english, 2011

Copy number variation findings among 50 children and adolescents with autism spectrum disorder

Sorte, Hanne S., Gjevik, Elen, Sponheim, Eili, Eiklid, Kristin L., Rødningen, Olaug K.

Journal:

Psychiatric Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 461 KB

english, 2013

Ct Characterization of Developmental Variations of the Paranasal Sinuses in Cystic Fibrosis

Eggesbø, H.B., Søvik, S., Dølvik, S., Eiklid, K., Kolmannskog, F.

Journal:

Acta Radiologica

Année:

2001

Langue:

english

Fichier:

PDF, 237 KB

english, 2001

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

Ørstavik, Karen Helene, Elise Ørstavik, Ragnhild, Eiklid, Kristin, Tranebjærg, Lisbeth

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 412 KB

english, 1996

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

Ragnhild Eliseörstavik, Niels Tommerup, Kristin Eiklid, Karen Heleneörstavik

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 551 KB

english, 1995

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation

Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi, Jon Steen-Johnsen

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 348 KB

english, 2006

Cognitive impairment and the role of the ApoE ε4-allele after stroke—a 13 months follow-up study

Jørgen Wagle, Lasse Farner, Kjell Flekkøy, Torgeir B. Wyller, Leiv Sandvik, Kristin L. Eiklid, Brynjar Fure, Brynhild Stensrød, Knut Engedal

Journal:

International Journal of Geriatric Psychiatry

Année:

2010

Langue:

english

Fichier:

PDF, 151 KB

english, 2010

394delTT: a Nordic cystic fibrosis mutation

Marianne Schwartz, Maria Anvret, Mireille Claustres, Hans Geir Eiken, Kristin Eiklid, Charlotte Schaedel, Lisa Stolpe, Lisbeth Tranebjærg

Journal:

Human Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 624 KB

english, 1994

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome

Kari Lima, Ivar Følling, Kristin L. Eiklid, Solveig Natvig, Tore G. Abrahamsen

Journal:

European Journal of Pediatrics

Année:

2010

Langue:

english

Fichier:

PDF, 139 KB

english, 2010

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia

A. K. Erichsen, E. Inderhaug, M. Mattingsdal, K. Eiklid, C. M. E. Tallaksen

Journal:

European Journal of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 504 KB

english, 2007

ABCB4 sequence variations in young adults with cholesterol gallstone disease

Karl Esten Nakken, Knut Jørgen Labori, Olaug K. Rødningen, Sigve Nakken, Knut E. Berge, Kristin Eiklid, Morten G. Ræder

Journal:

Liver International

Année:

2009

Langue:

english

Fichier:

PDF, 89 KB

english, 2009

OC28.05: Does serotonin transporter gene polymorphism influence the maternal psychological reaction shortly after sonographic detection of fetal anomaly?

A. Kaasen, A. Helbig, A. Heiberg, K. Eiklid, T. Næs, U. F. Malt, G. Haugen

Journal:

Ultrasound in Obstetrics & Gynecology

Année:

2011

Langue:

english

Fichier:

PDF, 51 KB

english, 2011

CT characterization of developmental variations of the paranasal sinuses in cystic fibrosis

H. B. Eggesbø, S. Søvik, S. Dølvik, K. Eiklid, F. Kolmannskog

Journal:

Acta Radiologica

Année:

2001

Langue:

english

Fichier:

PDF, 233 KB

english, 2001

Fanconi anaemia, BRCA2 and familial considerations – follow up on a previous case report

Trine Levin Bodd, Marijke Van Ghelue, Kristin Eiklid, Ellen Ruud, Pål Møller, Lovise Mæhle

Journal:

Acta Paediatrica

Année:

2010

Langue:

english

Fichier:

PDF, 160 KB

english, 2010

Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

Kristin Eiklid, Lisbeth Tranebjærg, Hans G. Eiken, Jan C. Pedersen, Helge Michalsen, Gjermund Fluge, Marianne Schwartz, Bjørn R. Nilsen, Roald Bolle, Dag Skyberg, Helge Boman, Kare Berg

Journal:

Clinical Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 201 KB

english, 1993

Specificity and characteristics of the carnitine transport in human heart cells (CCL 27) in culture

Per Mølstad, Thomas Bøhmer, Kristin Eiklid

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1977

Langue:

english

Fichier:

PDF, 435 KB

english, 1977

Carnitine uptake into human heart cells in culture

T. Böhmer, Kristin Eiklid, J. Jonsen

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1977

Langue:

english

Fichier:

PDF, 400 KB

english, 1977

CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study

Monica Cheng Munthe-Kaas, Karin C. Lødrup Carlsen, Kai-Håkon Carlsen, Beate Skinningsrud, Geir Håland, Chandra Sekhar Devulapalli, Morten Pettersen, Kristin Eiklid

Journal:

Respiratory Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 151 KB

english, 2006

222. Hypoplasia of the sphenoid sinuses in cystic fibrosis; a diagnostic tool?

H.B. Eggesbø, T. Eken, K. Eiklid, F. Kolmannskog

Journal:

The Netherlands Journal of Medicine

Année:

1999

Langue:

english

Fichier:

PDF, 15 KB

english, 1999

Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q

Laura N. Bull, Erin Roche, Eyun J. Song, Jan Pedersen, A.S. Knisely, , C.B. van der Hagen, Kristin Eiklid, Øystein Aagenaes, Nelson B. Freimer

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 689 KB

english, 2000

Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection

K.H. Ørstavik, K. Eiklid, C.B. van der Hagen, S. Spetalen, K. Kierulf, O. Skjeldal, K. Buiting

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 46 KB

english, 2003

Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis

H. B. Eggesbø,S. Søvik,S. Dølvik,K. Eiklid,F. Kolmannskog

Journal:

European Radiology

Année:

2003

Langue:

english

Fichier:

PDF, 330 KB

english, 2003

Entry of lethal doses of abrin, ricin and modeccin into the cytosol of HeLa cells

Kristin Eiklid, Sjur Olsnes, Alexander Pihl

Journal:

Experimental Cell Research

Année:

1980

Langue:

english

Fichier:

PDF, 842 KB

english, 1980

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gregor D. Gilfillan, Kaja K. Selmer, Ingrid Roxrud, Raffaella Smith, Mårten Kyllerman, Kristin Eiklid, Mette Kroken, Morten Mattingsdal, Thore Egeland, Harald Stenmark, Hans Sjøholm, Andres Server, Le

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 801 KB

english, 2008

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life

Prescott, Trine, Redfors, Maria, Rustad, Cecilie Fremstad, Eiklid, Kristin Louise, Geirdal, Amy Østertun, Storhaug, Kari, Jensen, Janicke Liaaen

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 350 KB

english, 2013

CARNITINE DEFICIENCY INDUCED DURING INTERMITTENT HÆMODIALYSIS FOR RENAL FAILURE

Bohmer, Thomas, Bergrem, Harald, Eiklid, Kristin

Journal:

The Lancet

Année:

1978

Langue:

english

Fichier:

PDF, 576 KB

english, 1978

A 5.8kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome

Holm, Ingunn, Monclair, Tom, Lundar, Tryggve, Stadheim, Barbro, Prescott, Trine E., Eiklid, Kristin L.

Journal:

Gene

Année:

2013

Langue:

english

Fichier:

PDF, 533 KB

english, 2013

A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects

Möller, Thomas, Leren, Trond P., Eiklid, Kristin L., Holmstrøm, Henrik, Fredriksen, Per Morten, Thaulow, Erik

Journal:

Scandinavian Cardiovascular Journal

Année:

2010

Langue:

english

Fichier:

PDF, 71 KB

english, 2010

Association between ApoE &epsi;4 and Cognitive Impairment after Stroke

Wagle, J&oslash, rgen, Farner, Lasse, Flekk&oslash, y, Kjell, Wyller, Torgeir Bruun, Sandvik, Leiv, Eiklid, Kristin L., Fure, Brynjar, Stensr&oslash, d, Brynhild, Engedal, Knut

Journal:

Dementia and Geriatric Cognitive Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 169 KB

english, 2009

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Apelland, T., Gude, E., Strom, E. H., Gullestad, L., Eiklid, K. L., Mansson, J.-E., Reinholt, F. P., Houge, G., Dahl, C. P., Almaas, V. M., Heiberg, A.

Journal:

Heart (British Cardiac Society)

Année:

2014

Langue:

english

Fichier:

PDF, 3.40 MB

english, 2014

Hypoplasia of the Sphenoid Sinuses as a Diagnostic Tool in Cystic Fibrosis

Eggesbø, Heidi B., Eken, T., Eiklid, K., Kolmannskog, F.

Journal:

Acta Radiologica

Année:

1999

Langue:

english

Fichier:

PDF, 740 KB

english, 1999

Interaction of Shigella Shigae Cytotoxin with Receptors on Sensitive and Insensitive Cells

Eiklid, K., Olsnes, S.

Journal:

Journal of Receptor and Signal Transduction Research

Année:

1980

Langue:

english

Fichier:

PDF, 706 KB

english, 1980

Discussion: Strain-hardening effects in reinforced concrete

Eiklid, Gunnar-Erik, Gerstle, Kurt H., Tulin, Leonard G., Ghosh, S. K.

Journal:

Magazine of Concrete Research

Année:

1970

Langue:

english

Fichier:

PDF, 408 KB

english, 1970

Strain-hardening effects in reinforced concrete

Eiklid, Gunnar-Erik, Gerstle, Kurt H., Tulin, Leonard G.

Journal:

Magazine of Concrete Research

Année:

1969

Langue:

english

Fichier:

PDF, 1005 KB

english, 1969

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios

Holm, Ingunn, Spildrejorde, Mari, Stadheim, Barbro, Eiklid, Kristin L., Samarakoon, Pubudu S.

Journal:

Gene

Année:

2017

Langue:

english

Fichier:

PDF, 663 KB

english, 2017