Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.

Cytogenetic and genome research - 1 Jan 2012

Jobanputra V, Levy B, Kinney A, Brown S, Shirazi M, Yu C, Kline J, Warburton D

Abstract excerpt

AIM: To test the hypothesis that microdeletions or microduplications below the resolution of a standard karyotype may be a significant cause of highly skewed X-inactivation (HSXI) in women without a cytogenetically detected X-chromosome anomaly. METHODS: Cases were women with HSXI, defined as ≥85% of cells in a blood sample with the same active allele at the HUMARA locus. The skewing in controls ranged from 50 to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abortion, Spontaneous
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Oligonucleotide Array Sequence Analysis

Share to Pregnancy

Share to Receptors, Androgen

Share to Trisomy

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 22516899
DOI: 10.1159/000337920
PMCID: PMC4315938

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.PMID 22516899Read ↗

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.Semantic proximity Read ↗

Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach.Semantic proximity Read ↗

Skewed X inactivation in X-linked disorders.Semantic proximity Read ↗

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.Semantic proximity Read ↗

CpG dinucleotide methylation patterns in the human androgen receptor gene and X-chromosome inactivation in peripheral blood leukocytes of phenotypically normal women.Semantic proximity Read ↗

A whole-organism landscape of X-inactivation in humansSemantic proximity Read ↗

Nonrandom X Chromosome Inactivation Detection.Semantic proximity Read ↗

Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients.Semantic proximity Read ↗

Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay.Semantic proximity Read ↗

X chromosome inactivation in clinical practice.Semantic proximity Read ↗

Skewed X inactivation in healthy individuals and in different diseasesSemantic proximity Read ↗

Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.