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Items: 24


Noninvasive Detection of ctDNA Reveals Intratumor Heterogeneity and Is Associated with Tumor Burden in Gastrointestinal Stromal Tumor.

Namløs HM, Boye K, Mishkin SJ, Barøy T, Lorenz S, Bjerkehagen B, Stratford EW, Munthe E, Kudlow BA, Myklebost O, Meza-Zepeda LA.

Mol Cancer Ther. 2018 Nov;17(11):2473-2480. doi: 10.1158/1535-7163.MCT-18-0174. Epub 2018 Aug 10.


Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C.

Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26.


Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D.

Genes (Basel). 2016 Nov 29;7(12). pii: E108.


Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Barøy T, Chilamakuri CS, Lorenz S, Sun J, Bruland ØS, Myklebost O, Meza-Zepeda LA.

PLoS One. 2016 Sep 29;11(9):e0163859. doi: 10.1371/journal.pone.0163859. eCollection 2016.


Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P.

Neuromuscul Disord. 2016 Sep;26(9):570-5. doi: 10.1016/j.nmd.2016.06.457. Epub 2016 Jun 22.


A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D.

Eur J Med Genet. 2016 Jun;59(6-7):342-6. doi: 10.1016/j.ejmg.2016.05.005. Epub 2016 May 13.


Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B.

BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4.


Unscrambling the genomic chaos of osteosarcoma reveals extensive transcript fusion, recurrent rearrangements and frequent novel TP53 aberrations.

Lorenz S, Barøy T, Sun J, Nome T, Vodák D, Bryne JC, Håkelien AM, Fernandez-Cuesta L, Möhlendick B, Rieder H, Szuhai K, Zaikova O, Ahlquist TC, Thomassen GO, Skotheim RI, Lothe RA, Tarpey PS, Campbell P, Flanagan A, Myklebost O, Meza-Zepeda LA.

Oncotarget. 2016 Feb 2;7(5):5273-88. doi: 10.18632/oncotarget.6567.


A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.

Hladilkova E, Barøy T, Fannemel M, Vallova V, Misceo D, Bryn V, Slamova I, Prasilova S, Kuglik P, Frengen E.

Mol Cytogenet. 2015 Jul 31;8:57. doi: 10.1186/s13039-015-0157-0. eCollection 2015.


A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E.

Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.


Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D.

Am J Med Genet A. 2015 Mar;167A(3):657-63. doi: 10.1002/ajmg.a.36944.


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.

Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7.


Reexpression of LSAMP inhibits tumor growth in a preclinical osteosarcoma model.

Barøy T, Kresse SH, Skårn M, Stabell M, Castro R, Lauvrak S, Llombart-Bosch A, Myklebost O, Meza-Zepeda LA.

Mol Cancer. 2014 Apr 28;13:93. doi: 10.1186/1476-4598-13-93.


Epigenetic regulation and functional characterization of microRNA-142 in mesenchymal cells.

Skårn M, Barøy T, Stratford EW, Myklebost O.

PLoS One. 2013 Nov 13;8(11):e79231. doi: 10.1371/journal.pone.0079231. eCollection 2013.


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.

Am J Med Genet A. 2013 May;161A(5):1137-42. doi: 10.1002/ajmg.a.35823. Epub 2013 Mar 5.


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.

Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3.


Modulation of the osteosarcoma expression phenotype by microRNAs.

Namløs HM, Meza-Zepeda LA, Barøy T, Østensen IH, Kresse SH, Kuijjer ML, Serra M, Bürger H, Cleton-Jansen AM, Myklebost O.

PLoS One. 2012;7(10):e48086. doi: 10.1371/journal.pone.0048086. Epub 2012 Oct 25.


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.

Eur J Med Genet. 2012 Dec;55(12):695-9. doi: 10.1016/j.ejmg.2012.08.002. Epub 2012 Aug 30.


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.

Gene. 2012 Oct 1;507(1):85-91. doi: 10.1016/j.gene.2012.07.021. Epub 2012 Jul 27.


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.

Am J Med Genet A. 2011 Feb;155A(2):403-8. doi: 10.1002/ajmg.a.33798. Epub 2011 Jan 14.


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.

Eur J Med Genet. 2010 Jul-Aug;53(4):221-4. doi: 10.1016/j.ejmg.2010.03.010. Epub 2010 Apr 9.


shRNA expression constructs designed directly from siRNA oligonucleotide sequences.

Barøy T, Sørensen K, Lindeberg MM, Frengen E.

Mol Biotechnol. 2010 Jun;45(2):116-20. doi: 10.1007/s12033-010-9247-8.


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.

Neurogenetics. 2009 Oct;10(4):371-4. doi: 10.1007/s10048-009-0197-x. Epub 2009 May 27.


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

Barøy T, Misceo D, Frengen E.

Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5. Review. Norwegian.

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