ArticleAmerican journal of human genetics2006
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 170 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
170 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- ATR-X syndrome: genetics, clinical spectrum, and management.Human genetics · 2021Pooled it
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- X chromosome-wide association studies for quantitative trait loci based on the mixture of general pedigrees and additional unrelated individuals.Briefings in bioinformatics · 2026Article
- Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.Journal of inherited metabolic disease · 2026Article
- Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.NPJ genomic medicine · 2026Article
- Integrative modeling to improve bleeding risk prediction in adult female hemophilia A carriers.Journal of thrombosis and haemostasis : JTH · 2026Observational
- Escape from X inactivation drives sex differences in gene expression.Molecular biology and evolution · 2026Article
- Emerging role ofFrontiers in molecular neuroscience · 2026Article
- X chromosome inactivation, X-linked disorders, and cancer.Frontiers in genetics · 2026Review
- A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De NovoInternational journal of molecular sciences · 2025Article
- Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.Current issues in molecular biology · 2025Review
- Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.Neurology. Genetics · 2025Article
- Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.BMC neurology · 2025Article
- Article
- Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.Italian journal of pediatrics · 2025Article
- X-chromosome-wide association study for Alzheimer's disease.Molecular psychiatry · 2025Article
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- Evolution of genome-wide methylation profiling technologies.Genome research · 2025Review
- CALRBlood cancer journal · 2025Article
110 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome inactive and half with the maternally derived X chromosome inactive. Significant departures from such a random pattern are hallmarks of a variety of clinical states, including being carriers for severe X-linked diseases or X-chromosome cytogenetic abnormalities. To evaluate the significance of skewed patterns of X inactivation, we examined patterns of X inactivation in a population of >1,000 phenotypically unaffected females. The data demonstrate that only a very small proportion of unaffected females show significantly skewed inactivation, especially during the neonatal period. By comparison with this data set, the degree of skewed inactivation in a given individual can now be quantified and evaluated for its potential clinical significance.
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