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Tina Duelund Hjortshoj

Explore the profile of Tina Duelund Hjortshoj including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 27
Citations 244
Followers 0
Related Specialties
Genetics
General Medicine
Cell Biology
Top 10 Co-Authors
Karen Gronskov
Zeynep Tumer
Karen Brondum-Nielsen
Lisbeth Birk Moller
Thomas Rosenberg
Lasse Jonsgaard Larsen
Caroline Amalie Brunbjerg Hey
Allan Bayat
Finn Stener Jorgensen
Olav Bjorn Petersen
Published In
Ugeskr Laeger
Am J Med Genet A
Stem Cell Res
Am J Obstet Gynecol
Clin Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Triple trouble: uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study
Kristensen S, Ekelund C, Sandager P, Jorgensen F, Hoseth E, Sperling L, et al.
Am J Obstet Gynecol . 2023 Jun; 229(5):555.e1-555.e14. PMID: 37263399
Background: Triplet pregnancies are high risk for both the mother and the infants. The risks for infants include premature birth, low birthweight, and neonatal complications. Therefore, the management of triplet...
2.
DNA methylation signature classification of rare disorders using publicly available methylation data
Hildonen M, Ferilli M, Duelund Hjortshoj T, Duno M, Risom L, Bak M, et al.
Clin Genet . 2023 Jan; 103(6):688-692. PMID: 36705342
Disease-specific DNA methylation patterns (DNAm signatures) have been established for an increasing number of genetic disorders and represent a valuable tool for classification of genetic variants of uncertain significance (VUS)....
3.
Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study
Kristensen S, Ekelund C, Sandager P, Jorgensen F, Hoseth E, Sperling L, et al.
Am J Obstet Gynecol . 2022 Nov; 228(5):590.e1-590.e12. PMID: 36441092
Background: Twin pregnancies carry a higher risk of congenital and structural malformations, and pregnancy complications including miscarriage, stillbirth, and intrauterine fetal death, compared with singleton pregnancies. Carrying a fetus with...
4.
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy
Jeppesen L, Duelund Hjortshoj T, Hindkjaer J, Hatt L, Petersen O, Singh R, et al.
Front Genet . 2022 Apr; 13:842092. PMID: 35360877
The existing risk of procedure-related miscarriage following invasive sampling for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test these typically difficultly obtained pregnancies invasively....
5.
5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
Bayat A, Bayat M, Broers C, Polstra A, Zwijnenburg P, Duelund Hjortshoj T
Am J Med Genet A . 2021 Jul; 185(12):3844-3850. PMID: 34322994
Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability,...
6.
Deletion of and causes abnormal skull morphology and global developmental delay
Singh R, Cohen A, Poulton C, Duelund Hjortshoj T, Akahira-Azuma M, Mendiratta G, et al.
Cold Spring Harb Mol Case Stud . 2021 Jun; 7(3). PMID: 34117072
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the gene cause variable...
7.
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
Hey C, Larsen L, Tumer Z, Brondum-Nielsen K, Gronskov K, Duelund Hjortshoj T, et al.
Int J Mol Sci . 2021 Feb; 22(3). PMID: 33572860
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal dystrophy, renal cysts, obesity and polydactyly. BBS genes have been implicated in ciliogenesis, hedgehog signaling and retinal pigment epithelium maturation. BBS1...
8.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Manole A, Efthymiou S, OConnor E, Mendes M, Jennings M, Maroofian R, et al.
Am J Hum Genet . 2020 Aug; 107(2):311-324. PMID: 32738225
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families,...
9.
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3
Trimouille A, Tingaud-Sequeira A, Lacombe D, Duelund Hjortshoj T, Kreiborg S, Hove H, et al.
Clin Genet . 2020 Jul; 98(4):384-389. PMID: 32639022
Oculo-auriculo-vertebral spectrum (OAVS) [MIM:164210], or Goldenhar syndrome, is a developmental disorder associating defects of structures derived from the first and second branchial arches. The genetic origin of OAVS is supported...
10.
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium
Jespersgaard C, Hey A, Ilginis T, Duelund Hjortshoj T, Fang M, Bertelsen M, et al.
Invest Ophthalmol Vis Sci . 2020 Feb; 61(2):29. PMID: 32084271
Purpose: Cone-rod dystrophy (CRD) is a rare hereditary eye disorder that causes progressive degeneration of cone and rod photoreceptors. More than 30 genes, including RAB28, have been associated with CRD;...