Tuva Barøy
Position: PhD-student, MSc
Phone: +47 23016627
Email:
 

Author network for Tuva Barøy by COREMINE medical


Publications 2016

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 (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
PubMed 27182039

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
PubMed 27450922

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
PubMed 27916860

Publications 2015

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 (2015)
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
PubMed 26220973

Hladilkova E, Barøy T, Fannemel M, Vallova V, Misceo D, Bryn V, Slamova I, Prasilova S, Kuglik P, Frengen E (2015)
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
Mol Cytogenet, 8, 57
PubMed 26236398

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
PubMed 25691420

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
PubMed 26684006

Publications 2014

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
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
Eur J Med Genet, 57 (9), 513-9
PubMed 24911659

Publications 2013

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 (2013)
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
PubMed 23294540

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
PubMed 23463539

Publications 2012

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
PubMed 22986108

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Gene, 507 (1), 85-91
PubMed 22842548

Publications 2011

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
PubMed 21271662

Publications 2010

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
PubMed 20382277

Barøy T, Sørensen K, Lindeberg MM, Frengen E (2010)
shRNA expression constructs designed directly from siRNA oligonucleotide sequences
Mol Biotechnol, 45 (2), 116-20
PubMed 20119685

Publications 2009

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E (2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
PubMed 19471976

Publications 2008

Barøy T, Misceo D, Frengen E (2008)
[Structural variation in the human genome contributes to variation of traits]
Tidsskr Nor Laegeforen, 128 (17), 1951-5
PubMed 18787571