Publications by authors named "Siren Berland"

21Publications

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

Acta Ophthalmol 2017 May 24;95(3):240-246. Epub 2016 Oct 24.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1111/aos.13273DOI Listing
May 2017

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.

Ophthalmic Genet 2016 06 2;37(2):183-93. Epub 2015 Sep 2.

e Department of Ophthalmology , Lund University , Lund , Sweden.

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http://dx.doi.org/10.3109/13816810.2015.1020558DOI Listing
June 2016

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

Am J Med Genet A 2014 Jul 26;164A(7):1622-6. Epub 2014 Mar 26.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36498DOI Listing
July 2014

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Eur J Hum Genet 2013 Dec 10;21(12):1344-8. Epub 2013 Apr 10.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

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http://dx.doi.org/10.1038/ejhg.2013.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831082PMC
December 2013

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

Clin Dysmorphol 2010 Oct;19(4):222-4

Department of Clinical Genetics, St. Olavs Hospital HF, Trondheim, Norway.

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http://dx.doi.org/10.1097/MCD.0b013e32833dc589DOI Listing
October 2010