Publications by Hilde Tveitan Hilmarsen
20 publications found
Original articles
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Brain, 146 (3), 912-922
DOI 10.1093/brain/awac488, PubMed 36542484
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
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
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
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
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
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
Clinical exome sequencing – Norwegian findings
Tidsskr Nor Laegeforen, 135 (20), 1833-7
DOI 10.4045/tidsskr.14.1442, PubMed 26534809
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
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
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
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
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
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
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
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
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
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
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
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