Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1 von Heimdal, K., Dalhus, B., Rødningen, O.K., Kroken, M., Eiklid, K., Dheyauldeen, S., Røysland, T., Andersen, R., Kulseth, M.A.

Volltext

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism von Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.

Volltext

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems von von der Lippe, C, Rustad, C, Heimdal, K, Rødningen, O.K

Volltext

Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies von Zink, A.M., Wohlleber, E., Engels, H., Rødningen, O.K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F.F., Kreiß-Nachtsheim, M., Vogt, P.H., Prescott, T.E., Tümer, Z., Lee, J.A.

Volltext

Transcriptional response to ionizing radiation in human radiation sensitive cell lines von Landmark, H, Nahas, S.A, Aarøe, J, Gatti, R, Børresen-Dale, A.-L, Rødningen, O.K

Volltext

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syn... von Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

Volltext

Molecular genetics of familial hypercholesterolaemia in Norway von LEREN, T. P., TONSTAD, S., GUNDERSEN, K. E., BAKKEN, K. S., RØDNINGEN, O. K., SUNDVOLD, H., OSE, L., BERG, K.

Volltext

Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome seque... von Bayer, D. K., Martinez, C. A., Sorte, H. S., Forbes, L. R., Demmler‐Harrison, G. J., Hanson, I. C., Pearson, N. M., Noroski, L. M., Zaki, S. R., Bellini, W. J., Leduc, M. S., Yang, Y., Eng, C. M., Patel, A., Rodningen, O. K., Muzny, D. M., Gibbs, R. A., Campbell, I. M., Shaw, C. A., Baker, M. W., Zhang, V., Lupski, J. R., Orange, J. S., Seeborg, F. O., Stray‐Pedersen, A.

Volltext

The genetic algorithm applied to haplotype data at the LDL receptor locus von Braaten, Øivind, Rødningen, Olaug K, Nordal, Inger, Leren, Trond P

Volltext

Application of long polymerase chain reaction in the study of the LDL receptor gene von Rødningen, O. K., Leren, T. P.

Volltext

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia von LEREN, T. P, SUNDVOLD, H, RØDNINGEN, O. K, TONSTAD, S, SOLBERG, K, OSE, L, BERG, K

Volltext

Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects von Leren, Trond P., Solberg, Kari, Rødningen, Olaug K., Tonstad, Serena, Ose, Leiv

Volltext

Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia von LEREN, T. P, SOLBERG, K, RØDNINGEN, O. K, TONSTAD, S, OSE, L

Volltext

Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene von Solberg, K., Rødningen, O. K., Tonstad, S., Ose, L., Leren, T. P.

Volltext

Identification of the apo B-3500 mutation in the Norwegian population von Leren, T. P., Rosdningen, O. K., Tonstad, S., Rossby, O., Urdal, P., Ose, L.

Volltext

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity von Rødningen, Olaug K., Tonstad, Serena, Saugstad, Ola Didrik, Ose, Leiv, Leren, Trond P.

Volltext

Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene von Rødningen, O K, Tonstad, S, Medh, J D, Chappell, D A, Ose, L, Leren, T P

Volltext

Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA von Rødningen, Olaug K., Tonstad, Serena, Ose, Leiv, Berg, Kåre, Leren, Trond P.

Volltext

A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects von Sundvold, Hilde, Solberg, Kari, Tonstad, Serena, Rødningen, Olaug K., Ose, Leiv, Berg, Kåre, Leren, Trond P.

Volltext

Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms : detection of a nonsense mutation-FH4... von LEREN, T. P, SOLBERG, K, RØDNINGEN, O. K, RØSBY, O, TONSTAD, S, OSE, L, BERG, K

Volltext