RSS feed

Publications by Hilde Tveitan Hilmarsen

20 publications found

Original articles

Løseth S, Høyer H, Le KM, Delpire E, Kinge E, Lande A, Hilmarsen HT, Fagerheim T, Nilssen Ø, Braathen GJ (2023)
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Brain, 146 (3), 912-922
DOI 10.1093/brain/awac488, PubMed 36542484

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

Høyer H, Hilmarsen HT, Sunder-Plassmann R, Braathen GJ, Andersen PM, Beetz C, Hacker S, Holla ØL, Kurth I, Löscher WN, Reiter SBCF, Rudnik-Schöneborn S, Strand L, Windhager R, Witsch-Baumgartner M, Senderek J, Auer-Grumbach M (2022)
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
J Med Genet, 59 (10), 1024-1026
DOI 10.1136/jmedgenet-2021-108281, PubMed 35318247

Al Mandhari H, Al-Musalhi B, Al Mahroqi N, Hilmarsen HT, Braathen GJ, Khnykin D (2020)
Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
Int J Dermatol, 60 (3), 368-371
DOI 10.1111/ijd.15367, PubMed 33319372

Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A et al. (2020)
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Am J Med Genet A, 185 (1), 15-25
DOI 10.1002/ajmg.a.61907, PubMed 33029936

Fabrizi GM, Høyer H, Taioli F, Cavallaro T, Hilmarsen HT, Squintani GM, Zanette G, Braathen GJ (2020)
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene
Neuromuscul Disord, 30 (3), 227-231
DOI 10.1016/j.nmd.2019.12.007, PubMed 32085962

George R, Santhanam S, Samuel R, Chapla A, Hilmarsen HT, Braathen GJ, Reinholt FP, Jahnsen F, Khnykin D (2015)
Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India
Clin Case Rep, 4 (1), 87-9
DOI 10.1002/ccr3.462, PubMed 26783444

Holla ØL, Busk ØL, Tveten K, Hilmarsen HT, Strand L, Høyer H, Bakken A, Skjelbred CF, Braathen GJ (2015)
Clinical exome sequencing – Norwegian findings
Tidsskr Nor Laegeforen, 135 (20), 1833-7
DOI 10.4045/tidsskr.14.1442, PubMed 26534809

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2014)
Variant-beta luteinizing hormone is not associated with poor ovarian response to controlled ovarian hyperstimulation
Reprod Biol Endocrinol, 12, 20
DOI 10.1186/1477-7827-12-20, PubMed 24625195

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB (2014)
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing
Biomed Res Int, 2014, 210401
DOI 10.1155/2014/210401, PubMed 25025039

Li H, Hilmarsen HT, Hossain MB, Björk J, Hansteen IL, Albin M, Furu Skjelbred C, Broberg K (2012)
Telomere length and LINE1 methylation is associated with chromosomal aberrations in peripheral blood
Genes Chromosomes Cancer, 52 (1), 1-10
DOI 10.1002/gcc.22000, PubMed 22997064

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2012)
Increased risk of ovarian hyperstimulation syndrome following controlled ovarian hyperstimulation in patients with vascular endothelial growth factor +405 cc genotype
Gynecol Endocrinol, 28 (11), 845-9
DOI 10.3109/09513590.2012.683056, PubMed 22587628

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2011)
A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation
Reprod Biomed Online, 23 (1), 97-104
DOI 10.1016/j.rbmo.2011.02.015, PubMed 21565556

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2010)
Single nucleotide polymorphisms in the anti-Müllerian hormone signalling pathway do not determine high or low response to ovarian stimulation
Reprod Biomed Online, 21 (5), 616-23
DOI 10.1016/j.rbmo.2010.05.021, PubMed 20864412

Olsen GH, Andresen PA, Hilmarsen HT, Bjørang O, Scott H, Midtvedt K, Rinaldo CH (2006)
Genetic variability in BK Virus regulatory regions in urine and kidney biopsies from renal-transplant patients
J Med Virol, 78 (3), 384-93
DOI 10.1002/jmv.20551, PubMed 16419108

Almendingen K, Brevik A, Nymoen DA, Hilmarsen HT, Andresen PA, Andersen LF, Vatn M (2005)
Modulation of COX-2 expression in peripheral blood cells by increased intake of fruit and vegetables?
Eur J Clin Nutr, 59 (4), 597-602
DOI 10.1038/sj.ejcn.1602110, PubMed 15741988

Other articles

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB (2015)
Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing"
Biomed Res Int, 2015, 314651
DOI 10.1155/2015/314651, PubMed 26558264

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2014)
Increased risk of ovarian hyperstimulation syndrome following controlled ovarian hyperstimulation in patients with vascular endothelial growth factor +405 cc genotype (vol 28, pg 845, 2012)
Gynecol. Endocrinol., 30 (1), 81
DOI 10.3109/09513590.2013.853035

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2013)
A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation (vol 23, pg 97, 2011)
Reprod. Biomed. Online, 26 (6), 627
DOI 10.1016/j.rbmo.2013.02.002

Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA (2013)
Single nucleotide polymorphisms in the anti-Mullerian hormone signalling pathway do not determine high or low response to ovarian stimulation (vol 21, pg 613, 2010)
Reprod. Biomed. Online, 26 (6), 628
DOI 10.1016/j.rbmo.2013.02.001