Houge G - Search Results

1

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI. Berland S, et al. Among authors: houge g. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006113. doi: 10.1101/mcs.a006113. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34615670 Free PMC article.

2

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.

Sivertsen A, Lie RT, Wilcox AJ, Abyholm F, Vindenes H, Haukanes BI, Houge G. Sivertsen A, et al. Among authors: houge g. Am J Med Genet A. 2007 Jan 15;143A(2):129-34. doi: 10.1002/ajmg.a.31445. Am J Med Genet A. 2007. PMID: 17163526

3

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

Berland S, Houge G. Berland S, et al. Among authors: houge g. Clin Dysmorphol. 2010 Oct;19(4):222-224. doi: 10.1097/MCD.0b013e32833dc589. Clin Dysmorphol. 2010. PMID: 20729728 No abstract available.

4

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.

Berland S, Alme K, Brendehaug A, Houge G, Hovland R. Berland S, et al. Among authors: houge g. Mol Syndromol. 2011 Sep;1(6):294-300. doi: 10.1159/000330111. Epub 2011 Jul 19. Mol Syndromol. 2011. PMID: 22190899 Free PMC article.

5

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.

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: houge g. 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

A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.

Lien E, Våtevik AK, Østern R, Haukanes BI, Houge G. Lien E, et al. Among authors: houge g. Ann Neurol. 2016 Aug;80(2):311-2. doi: 10.1002/ana.24699. Epub 2016 Jun 28. Ann Neurol. 2016. PMID: 27273810 No abstract available.

8

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Cohen JS, et al. Among authors: houge g. Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10. Clin Genet. 2017. PMID: 27598823

9

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Aukrust I, Jansson RW, Bredrup C, Rusaas HE, Berland S, Jørgensen A, Haug MG, Rødahl E, Houge G, Knappskog PM. Aukrust I, et al. Among authors: houge g. Acta Ophthalmol. 2017 May;95(3):240-246. doi: 10.1111/aos.13273. Epub 2016 Oct 24. Acta Ophthalmol. 2017. PMID: 27775217 Free article.

10

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M. Hamilton MJ, et al. Among authors: houge g. J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11. J Med Genet. 2018. PMID: 29021403 Free PMC article.

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