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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S. Benko S, et al. Among authors: bruland o. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2. J Med Genet. 2011. PMID: 22051515
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: bruland o. 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.
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C. Xu L, et al. Among authors: bruland o. Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15. Am J Hum Genet. 2018. PMID: 30449416 Free PMC article.
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: bruland o. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.
297 results