Rødningen O - Search Results

1

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. Among authors: rodningen o. 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.

2

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. 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.

3

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: rodningen ok. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587

4

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. Clin Dysmorphol. 2009 Apr;18(2):78-82. doi: 10.1097/MCD.0b013e32831e19cd. Clin Dysmorphol. 2009. PMID: 19057379

5

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. Among authors: rodningen o. 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

6

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G. Johansson S, et al. Among authors: rodningen o. Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24678003

7

De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability.

Wangensteen T, Retterstøl L, Rødningen OK, Hjelmesaeth J, Aukrust P, Halvorsen B. Wangensteen T, et al. Am J Med Genet A. 2013 Jun;161A(6):1480-6. doi: 10.1002/ajmg.a.35927. Epub 2013 May 1. Am J Med Genet A. 2013. PMID: 23637016

8

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

Selmer KK, Bryne E, Rødningen OK, Fannemel M. Selmer KK, et al. Eur J Med Genet. 2012 Dec;55(12):715-8. doi: 10.1016/j.ejmg.2012.08.005. Epub 2012 Aug 23. Eur J Med Genet. 2012. PMID: 22975012

9

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D. Fannemel M, et al. Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7. Eur J Med Genet. 2014. PMID: 24911659

10

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.

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