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Title
X chromosome dosage and the genetic impact across human tissues
Authors
Keywords
-
Journal
Genome Medicine
Volume 15, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2023-03-28
DOI
10.1186/s13073-023-01169-4
References
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Note: Only part of the references are listed.- 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
- (2022) Emma B. Johannsen et al. Frontiers in Genetics
- Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
- (2021) Zahra Beyzaei et al. BMC Medical Genomics
- Calcium channelopathies and intellectual disability: a systematic review
- (2021) Miriam Kessi et al. Orphanet Journal of Rare Diseases
- Contribution of genetic and epigenetic changes to escape from X-chromosome inactivation
- (2021) Bradley P. Balaton et al. Epigenetics & Chromatin
- PWWP2B Fine‐Tunes Adipose Thermogenesis by Stabilizing HDACs in a NuRD Subcomplex
- (2021) Linyu Yan et al. Advanced Science
- Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
- (2021) Mette Hansen Viuff et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Skeletal muscle methylome and transcriptome integration reveals profound sex differences related to muscle function and substrate metabolism
- (2021) Shanie Landen et al. Clinical Epigenetics
- Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage
- (2020) Xianglong Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Tximeta: Reference sequence checksums for provenance identification in RNA-seq
- (2020) Michael I. Love et al. PLoS Computational Biology
- Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques
- (2020) José Luiz Barros Pena et al. European Heart Journal-Cardiovascular Imaging
- Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q
- (2020) Jing Hu et al. Current Medical Science
- European academy of andrology guidelines on Klinefelter Syndrome: Endorsing Organization: European Society of Endocrinology
- (2020) Michael Zitzmann et al. Andrology
- Sex hormone replacement therapy in Turner Syndrome - impact on morbidity and mortality
- (2019) Mette H Viuff et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study
- (2019) Simon Chang et al. THROMBOSIS RESEARCH
- Adipokine gene expression in adipocytes isolated from different fat depots of coronary artery disease patients
- (2019) Maxim Yu. Sinitsky et al. ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY
- Sex-chromosome dosage effects on gene expression in humans
- (2018) Armin Raznahan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- DNA hypermethylation and differential gene expression associated with Klinefelter syndrome
- (2018) Anne Skakkebæk et al. Scientific Reports
- Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
- (2017) Claus H Gravholt et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Landscape of X chromosome inactivation across human tissues
- (2017) Taru Tukiainen et al. NATURE
- Salmon provides fast and bias-aware quantification of transcript expression
- (2017) Rob Patro et al. NATURE METHODS
- The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome
- (2017) Anne Skakkebaek et al. Brain and Behavior
- Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi
- (2016) Jean-Philippe Fortin et al. BIOINFORMATICS
- Coronary artery anomalies in Turner Syndrome
- (2016) Mette H. Viuff et al. Journal of Cardiovascular Computed Tomography
- High Risk of Venous Thromboembolism in Klinefelter Syndrome
- (2016) Bengt Zöller et al. Journal of the American Heart Association
- Widespread DNA hypomethylation and differential gene expression in Turner syndrome
- (2016) Christian Trolle et al. Scientific Reports
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations
- (2015) Amit Sharma et al. Clinical Epigenetics
- Derivation of consensus inactivation status for X-linked genes from genome-wide studies
- (2015) Bradley P. Balaton et al. Biology of Sex Differences
- On the presence and role of human gene-body DNA methylation
- (2015) Daudi Jjingo et al. Oncotarget
- Osteoprotegerin in Turner syndrome - relationship to aortic diameter
- (2014) Christian Trolle et al. CLINICAL ENDOCRINOLOGY
- Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
- (2014) Sarah Vergult et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
- (2013) Amelia M. Lindgren et al. HUMAN GENETICS
- Long QT Interval in Turner Syndrome – A High Prevalence of LQTS Gene Mutations
- (2013) Christian Trolle et al. PLoS One
- Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile
- (2013) Anne Skakkebæk et al. NeuroImage-Clinical
- Cardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology
- (2012) Kristian H. Mortensen et al. ENDOCRINE REVIEWS
- The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming
- (2012) Abed AlFatah Mansour et al. NATURE
- Morbidity and mortality in Klinefelter syndrome (47,XXY)
- (2011) Anders Bojesen et al. ACTA PAEDIATRICA
- Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
- (2011) Allison M. Cotton et al. HUMAN GENETICS
- Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
- (2010) Anne Marie Ottesen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Autoimmune diseases in women with Turner's Syndrome
- (2010) Kristian T. Jørgensen et al. ARTHRITIS AND RHEUMATISM
- Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
- (2010) Elena Burashnikov et al. HEART RHYTHM
- Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition
- (2010) A. Bojesen et al. MOLECULAR HUMAN REPRODUCTION
- Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
- (2010) A Piton et al. MOLECULAR PSYCHIATRY
- WGCNA: an R package for weighted correlation network analysis
- (2008) Peter Langfelder et al. BMC BIOINFORMATICS
- An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)
- (2008) V. K. Rakyan et al. GENOME RESEARCH
- Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study
- (2008) Minouk J. Schoemaker et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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