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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. 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.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: berland s. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.
Berland S, Toft-Bertelsen TL, Aukrust I, Byska J, Vaudel M, Bindoff LA, MacAulay N, Houge G. Berland S, et al. Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb. Cold Spring Harb Mol Case Stud. 2018. PMID: 29437797 Free PMC article.
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.
Smajlagić D, Lavrichenko K, Berland S, Helgeland Ø, Knudsen GP, Vaudel M, Haavik J, Knappskog PM, Njølstad PR, Houge G, Johansson S. Smajlagić D, et al. Among authors: berland s. Eur J Hum Genet. 2021 Jan;29(1):205-215. doi: 10.1038/s41431-020-00707-7. Epub 2020 Aug 10. Eur J Hum Genet. 2021. PMID: 32778765 Free PMC article.
81 results