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TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

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Epigenetics in Turner syndrome

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The human inactive X chromosome modulates expression of the active X chromosome

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What microRNAs could tell us about the human X chromosome

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Epigenetics and genomics in Turner syndrome

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The human Y and inactive X chromosomes similarly modulate autosomal gene expression

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Skeletal muscle methylome and transcriptome integration reveals profound sex differences related to muscle function and substrate metabolism

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Bioinformatic Analysis Identifies Potential Key Genes in the Pathogenesis of Turner Syndrome

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OUP accepted manuscript

Gatev, E., Inkster, A. M., Negri, G. L., Konwar, C., Lussier, A. A., Skakkebaek, A. H., Sokolowski, M. B., Gravholt, C. H., Dunn, E. C., Kobor, M. S., et al. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab682 · Cited by 39 · see citing works

Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome

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Organ Abnormalities Caused by Turner Syndrome

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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47, XXX syndrome—A comparison with Turner syndrome and 46, XX females

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Cardiometabolic health in Turner syndrome

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Turner syndrome and fertility

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The lncRNAs at X Chromosome Inactivation Center: Not Just a Matter of Sex Dosage Compensation

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How do genes that escape from X‐chromosome inactivation contribute to Turner syndrome?

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X-factors in human disease: impact of gene content and dosage regulation

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A DNA Methylation Perspective on Infertility

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Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study

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X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

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Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

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Epigenetics and genomics in Klinefelter syndrome

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Sex-Related Effects on Cardiac Development and Disease

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CXXC5 as an unmethylated CpG dinucleotide binding protein contributes to estrogen-mediated cellular proliferation

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Sex Chromosomes and Sex Phenotype Contribute to Biased DNA Methylation in Mouse Liver

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Effects of human sex chromosome dosage on spatial chromosome organization

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Nationwide study of Turner syndrome in Ukrainian children: prevalence, genetic variants and phenotypic features

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Immunological Profile and Autoimmunity in Turner Syndrome

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Novel insights in Turner syndrome

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Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development

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A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome?

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The multi-omic landscape of sex chromosome abnormalities: current status and future directions

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Insights from circulating microRNAs in cardiovascular entities in turner syndrome patients

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Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis

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99‐Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease‐Associated Genes and Variants in Chinese Population

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New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY

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Chromosomal Abnormalities of Interest in Turner Syndrome: An Update

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Long Noncoding RNAs—Crucial Players Organizing the Landscape of the Neuronal Nucleus

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Generation of Primordial Germ Cell-like Cells from iPSCs Derived from Turner Syndrome Patients

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Turner syndrome: fertility counselling in childhood and through the reproductive lifespan

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The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes

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The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

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The mouse as a model of fundamental concepts related to Turner syndrome

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Turner Syndrome

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Sex- and species-specific contribution of CD99 to T cell costimulation during multiple sclerosis

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Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development

Berglund, A., Johannsen, E. B., Skakkebaek, A. H., Chang, S., Rohayem, J., Laurentino, S., Hørlyck, A., Drue, S. O., Bak, E. N., Fedder, J., et al. (2024) · Biology of Sex Differences · doi:10.1186/s13293-024-00654-8 · Cited by 9 · see citing works

Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research

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Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs

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Genomic instability in individuals with sex determination defects and germ cell cancer

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Skeletal muscle methylome and transcriptome integration reveals profound sex differences related to muscle function and substrate metabolismPreprint

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A second X chromosome improves cognition in aging male and female micePreprint

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Turner syndrome-omphalocele association: incidence, karyotype, phenotype and fetal outcome

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Analysis of genetic variability in Turner syndrome linked to long-term clinical features

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CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

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Micro RNAs and DNA methylation are regulatory players in human cells with altered X chromosome to autosome balance

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Genetics Plays a role in Nevi Distribution in Women

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Isochromosome Xq and the risk of metabolic comorbidities in Turner syndrome

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Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration

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The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

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Network-based analysis of key regulatory genes implicated in Type 2 Diabetes Mellitus and Recurrent Miscarriages in Turner Syndrome

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Higher CNV Frequencies in Chromosome 14 of Girls With Turner Syndrome Phenotype

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DNA Methylation Analysis of Turner Syndrome BAV

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Chromosomal numerical aberrations and rare copy number variation in patients with inflammatory Bowel disease

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Gene expression analysis of ovarian follicles and stromal cells in girls with Turner syndrome

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Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

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Lower HDAC6 mRNA expression and promoter hypomethylation are associated with RA susceptibility

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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes

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PPARGC1A promoter DNA-methylation level and glucose metabolism in Ecuadorian women with Turner syndrome

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“Donating our bodies to science”: A discussion about autopsy and organ donation in Turner syndrome

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BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve

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Evolution of Health Care in Turner Syndrome

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Epigenetic Deregulation of Telomere-Related Genes in Newly Diagnosed Multiple Myeloma Patients

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Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome)

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Single-nucleus RNA-sequencing reveals novel potential mechanisms of ovarian insufficiency in 45,X Turner SyndromePreprint

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Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review

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Epigenetic regulation by DNA methylation in PCOS and POI: mechanisms of ovarian dysfunction and implications for clinical research

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Immune Gene Expression Profiling in Individuals with Turner Syndrome, Graves’ Disease, and a Healthy Female by Single-Cell RNA Sequencing: A Comparative Study

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Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, Haemophilus influenzae type B and Streptococcus Pneumoniae

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7972 A Shared Phenotype, Transcriptome, and Methylome in Turner Syndrome Across Various Karyotypes with Concurrent Chronic Neutrophil Activation

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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47, XXX syndrome—A comparison with Turner syndrome and 46, XX females

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DNA Hypermethylation and a Specific Methylation Spectrum on the X Chromosome in Turner Syndrome as Determined by Nanopore Sequencing

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Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome

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