Chromosomes, Human, X
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Subject Areas on Research
- Allele-specific distribution of RNA polymerase II on female X chromosomes.
- An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
- Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.
- Ancient X chromosomes reveal contrasting sex bias in Neolithic and Bronze Age Eurasian migrations.
- Beyond 2/3 and 1/3: The Complex Signatures of Sex-Biased Admixture on the X Chromosome.
- Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.
- Clinical expression of Menkes disease in females with normal karyotype.
- Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition.
- Corticosteroids regulate epithelial cell differentiation and Hassall body formation in the human thymus.
- De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
- Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy.
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
- Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease.
- Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.
- Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men.
- Genetic determinants of serum testosterone concentrations in men.
- Genomic complexity identifies patients with aggressive chronic lymphocytic leukemia.
- Heritability of cardiovascular and personality traits in 6,148 Sardinians.
- Heritable individual-specific and allele-specific chromatin signatures in humans.
- High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.
- Histone modifications within the human X centromere region.
- Human chromosomes with shorter telomeres and large heterochromatin regions have a higher frequency of acquired somatic cell aneuploidy.
- Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
- LAMP2 microdeletions in patients with Danon disease.
- MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis.
- Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.
- Maternal microchimerism in Hirschsprung's disease.
- Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma.
- Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.
- No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis.
- Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment.
- Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association.
- Rare coding variants and X-linked loci associated with age at menarche.
- Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
- Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
- Telomere-to-telomere assembly of a complete human X chromosome.
- The DNA sequence of the human X chromosome.
- The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
- The multiple causes of human SCID.
- Unmasking a role for sex chromosomes in gene silencing.
- X-APL: an improved family-based test of association in the presence of linkage for the X chromosome.
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Keywords of People
- Reddy, Timothy E, Associate Professor of Biostatistics & Bioinformatics, Molecular Genetics and Microbiology