Rødningen OK - Search Results

1

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A. Prescott TE, et al. Among authors: rodningen ok. Clin Dysmorphol. 2009 Apr;18(2):78-82. doi: 10.1097/MCD.0b013e32831e19cd. Clin Dysmorphol. 2009. PMID: 19057379

2

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T. Sorte H, et al. Eur J Med Genet. 2012 Mar;55(3):196-202. doi: 10.1016/j.ejmg.2012.01.003. Epub 2012 Jan 16. Eur J Med Genet. 2012. PMID: 22306853

3

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.

Rødningen OK, Prescott T, Eriksson AS, Røsby O. Rødningen OK, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):646-50. doi: 10.1016/j.ejmg.2008.07.007. Epub 2008 Aug 5. Eur J Med Genet. 2008. PMID: 18725332

4

[Determination of chromosome aberrations with the help of DNA arrays].

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G. Rødningen OK, et al. Tidsskr Nor Laegeforen. 2010 May 6;130(9):944-7. doi: 10.4045/tidsskr.10.0101. Tidsskr Nor Laegeforen. 2010. PMID: 20453958 Free article. Norwegian. No abstract available.

5

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

Riise R, Ygge J, Lindman C, Stray-Pedersen A, Bek T, Rødningen OK, Heiberg A. Riise R, et al. Among authors: rodningen ok. Acta Ophthalmol Scand. 2007 Aug;85(5):557-62. doi: 10.1111/j.1600-0420.2007.00890.x. Epub 2007 Mar 22. Acta Ophthalmol Scand. 2007. PMID: 17376192 Free article.

6

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E. Barøy T, et al. Among authors: rodningen ok. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3. Orphanet J Rare Dis. 2013. PMID: 23294540 Free PMC article.

7

Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly.

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T. Kulseth MA, et al. Among authors: rodningen ok. Eur J Med Genet. 2011 Mar-Apr;54(2):130-5. doi: 10.1016/j.ejmg.2010.10.011. Epub 2010 Oct 31. Eur J Med Genet. 2011. PMID: 21044704

8

Identification of copy number variants from exome sequence data.

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R. Samarakoon PS, et al. Among authors: rodningen ok. BMC Genomics. 2014 Aug 7;15(1):661. doi: 10.1186/1471-2164-15-661. BMC Genomics. 2014. PMID: 25102989 Free PMC article.

9

Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA. Zink AM, et al. Among authors: rodningen ok. Mol Syndromol. 2014 Feb;5(2):65-75. doi: 10.1159/000357962. Epub 2014 Jan 29. Mol Syndromol. 2014. PMID: 24715853 Free PMC article.

10

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S. Bartholdi D, et al. Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664804 Free article.

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