Houge G - Search Results

1

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N. Hamanaka K, et al. Among authors: houge g. Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28. Eur J Hum Genet. 2019. PMID: 30487643 Free PMC article.

2

Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.

Gradek GA, Kvistad PH, Houge G. Gradek GA, et al. Among authors: houge g. Eur J Med Genet. 2006 Jul-Aug;49(4):292-7. doi: 10.1016/j.ejmg.2005.08.004. Epub 2005 Oct 6. Eur J Med Genet. 2006. PMID: 16829350

3

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12.

Blinkenberg EO, Brendehaug A, Sandvik AK, Vatne O, Hennekam RC, Houge G. Blinkenberg EO, et al. Among authors: houge g. Eur J Hum Genet. 2007 May;15(5):543-7. doi: 10.1038/sj.ejhg.5201800. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342156

4

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

Lybaek H, Meza-Zepeda LA, Kresse SH, Høysaeter T, Steen VM, Houge G. Lybaek H, et al. Among authors: houge g. Eur J Hum Genet. 2008 Nov;16(11):1318-28. doi: 10.1038/ejhg.2008.78. Epub 2008 May 7. Eur J Hum Genet. 2008. PMID: 18461090

5

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G. Lybaek H, et al. Among authors: houge g. Eur J Hum Genet. 2009 Jul;17(7):904-10. doi: 10.1038/ejhg.2008.261. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156171 Free PMC article.

6

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A. Asadollahi R, et al. Among authors: houge g. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403903 Free PMC article.

7

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G. Berland S, et al. Among authors: houge g. Eur J Hum Genet. 2013 Dec;21(12):1344-8. doi: 10.1038/ejhg.2013.71. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572028 Free PMC article.

8

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C. Courage C, et al. Among authors: houge g. Eur J Med Genet. 2014 Sep;57(9):520-3. doi: 10.1016/j.ejmg.2014.06.003. Epub 2014 Jun 13. Eur J Med Genet. 2014. PMID: 24932903

9

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J. Horn D, et al. Among authors: houge g. Eur J Med Genet. 2015 Aug;58(8):387-91. doi: 10.1016/j.ejmg.2015.06.003. Epub 2015 Jun 23. Eur J Med Genet. 2015. PMID: 26116559

10

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

Schmidt S, Nag HE, Hunn BS, Houge G, Hoxmark LB. Schmidt S, et al. Among authors: houge g. Eur J Med Genet. 2016 Apr;59(4):240-8. doi: 10.1016/j.ejmg.2016.01.004. Epub 2016 Jan 22. Eur J Med Genet. 2016. PMID: 26808425

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