Search Results - "Rødningen, O.K"

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

“…Abstract 15q11.2 microdeletion has been suggested as a new microdeletion syndrome and several patients have been described in the literature. We report seven…”
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Transcriptional response to ionizing radiation in human radiation sensitive cell lines by Landmark, H, Nahas, S.A, Aarøe, J, Gatti, R, Børresen-Dale, A.-L, Rødningen, O.K

“…Abstract Background and purpose Radiation is a common treatment of cancer, but some patients show severe side effects when exposed to small doses of radiation…”
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Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1 by Heimdal, K., Dalhus, B., Rødningen, O.K., Kroken, M., Eiklid, K., Dheyauldeen, S., Røysland, T., Andersen, R., Kulseth, M.A.

“…Hereditary hemorrhagic telangiectasia (HHT, Osler–Weber–Rendu disease) is an autosomal dominant inherited disease defined by the presence of epistaxis and…”
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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism by Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.

“…Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to play a key role in the…”
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Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies by 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.

“…Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often…”
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome by 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.

“…Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features…”
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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism by Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.

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