RSS feed

Publications by Oddveig Røsby

22 publications found

Original articles

Høyer H, Busk ØL, Esbensen QY, Røsby O, Hilmarsen HT, Russell MB, Nyman TA, Braathen GJ, Nilsen HL (2022)
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
BMC Neurol, 22 (1), 299
DOI 10.1186/s12883-022-02828-6, PubMed 35971119

Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC (2018)
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
J Neurodev Disord, 10 (1), 17
DOI 10.1186/s11689-018-9235-z, PubMed 29788902

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108

Lund C, Bjørnvold M, Tuft M, Kostov H, Røsby O, Selmer KK (2014)
Aicardi syndrome: an epidemiologic and clinical study in Norway
Pediatr Neurol, 52 (2), 182-6.e3
DOI 10.1016/j.pediatrneurol.2014.10.022, PubMed 25443581

Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520

Lund C, Brodtkorb E, Røsby O, Rødningen OK, Selmer KK (2013)
Copy number variants in adult patients with Lennox-Gastaut syndrome features
Epilepsy Res, 105 (1-2), 110-7
DOI 10.1016/j.eplepsyres.2013.01.009, PubMed 23415449

Rødningen OK, Prescott T, Eriksson AS, Røsby O (2008)
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
Eur J Med Genet, 51 (6), 646-50
DOI 10.1016/j.ejmg.2008.07.007, PubMed 18725332

Røsby O, Aleström P, Berg K (2000)
Sequence conservation in kringle IV-type 2 repeats of the LPA gene
Atherosclerosis, 148 (2), 353-64
DOI 10.1016/s0021-9150(99)00285-3, PubMed 10657572

Røsby O, Berg K (2000)
LPA gene: interaction between the apolipoprotein(a) size ('kringle IV' repeat) polymorphism and a pentanucleotide repeat polymorphism influences Lp(a) lipoprotein level
J Intern Med, 247 (1), 139-52
DOI 10.1046/j.1365-2796.2000.00628.x, PubMed 10672142

Rösby O, Aleström P, Berg K (1997)
High-degree sequence conservation in LPA kringle IV-type 2 exons and introns
Clin Genet, 52 (5), 293-302
DOI 10.1111/j.1399-0004.1997.tb04346.x, PubMed 9520119

Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH (1996)
Unilateral cleft lip in a boy with Angelman syndrome
J Craniofac Genet Dev Biol, 16 (2), 122-5
PubMed 8773903

Leren TP, Rødningen OK, Tonstad S, Røsby O, Urdal P, Ose L (1995)
Identification of the apo B-3500 mutation in the Norwegian population
Scand J Clin Lab Invest, 55 (3), 217-21
DOI 10.3109/00365519509089616, PubMed 7638555

Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K (1993)
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects
Clin Genet, 44 (4), 214-20
DOI 10.1111/j.1399-0004.1993.tb03883.x, PubMed 7903228

Leren TP, Solberg K, Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K (1993)
Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop
Hum Genet, 92 (1), 6-10
DOI 10.1007/BF00216137, PubMed 8103503

Leren TP, Rødningen OK, Røsby O, Solberg K, Berg K (1993)
Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads
Biotechniques, 14 (4), 618-23
PubMed 8476605

Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP (1992)
A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects
Clin Genet, 42 (6), 288-95
DOI 10.1111/j.1399-0004.1992.tb03258.x, PubMed 1362925

Leren TP, Solberg K, Røsby O, Rødningen OK, Tonstad S, Ose L, Berg K (1992)
A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects
Clin Genet, 42 (5), 224-8
DOI 10.1111/j.1399-0004.1992.tb03245.x, PubMed 1486698

Røsby O, Poledne R, Hjermann I, Tonstad S, Berg K, Leren TP (1992)
StyI polymorphism in an enhancer region of the second intron of the apolipoprotein B gene in hyper- and hypocholesterolemic subjects
Clin Genet, 42 (5), 217-23
DOI 10.1111/j.1399-0004.1992.tb03244.x, PubMed 1362528

Other articles

Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082

Røsby O, Legati A, Coppola G (2016)
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation
J Neurol, 263 (3), 594-6
DOI 10.1007/s00415-016-8033-3, PubMed 26860091

TONSTAD S, SIVERTSEN M, LEREN TP, ROSBY O, OSE L (1994)
RESPONSIVENESS TO DIETARY INDULGENCE AMONG PATIENTS WITH PRIMARY HYPERCHOLESTEROLEMIA
Nutr. Metab. Carbiovasc. Dis., 4 (3), 159-162

Theses

Røsby O (2000)
Studies on the LPA gene: a search for DNA structures influencing LP(a) lipoproteinlevel
Institute of Medical Genetics, University of Oslo and Department of Medical Genetics, Ullevål University Hospital, Oslo, 1 b. (flere pag.)
BIBSYS 000610119, ISBN 82-995494-1-8