Barøy T - Search Results

1

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E. Floor K, et al. Among authors: baroy t. Eur J Med Genet. 2012 Dec;55(12):695-9. doi: 10.1016/j.ejmg.2012.08.002. Epub 2012 Aug 30. Eur J Med Genet. 2012. PMID: 22986108

2

[Structural variation in the human genome contributes to variation of traits].

Barøy T, Misceo D, Frengen E. Barøy T, et al. Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5. Tidsskr Nor Laegeforen. 2008. PMID: 18787571 Free article. Review. Norwegian.

3

SCA27 caused by a chromosome translocation: further delineation of the phenotype.

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E. Misceo D, et al. Among authors: baroy t. Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27. Neurogenetics. 2009. PMID: 19471976

4

shRNA expression constructs designed directly from siRNA oligonucleotide sequences.

Barøy T, Sørensen K, Lindeberg MM, Frengen E. Barøy T, et al. Mol Biotechnol. 2010 Jun;45(2):116-20. doi: 10.1007/s12033-010-9247-8. Mol Biotechnol. 2010. PMID: 20119685

5

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E. Barøy T, et al. Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382277

6

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E. Misceo D, et al. Among authors: baroy t. Am J Med Genet A. 2011 Feb;155A(2):403-8. doi: 10.1002/ajmg.a.33798. Epub 2011 Jan 14. Am J Med Genet A. 2011. PMID: 21271662

7

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E. Misceo D, et al. Among authors: baroy t. Gene. 2012 Oct 1;507(1):85-91. doi: 10.1016/j.gene.2012.07.021. Epub 2012 Jul 27. Gene. 2012. PMID: 22842548

8

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E. Barøy T, et al. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3. Orphanet J Rare Dis. 2013. PMID: 23294540 Free PMC article.

9

Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression.

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E. Helle JR, et al. Among authors: baroy t. Am J Med Genet A. 2013 May;161A(5):1137-42. doi: 10.1002/ajmg.a.35823. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463539

10

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D. Fannemel M, et al. Among authors: baroy t. Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7. Eur J Med Genet. 2014. PMID: 24911659

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