ArticleJournal of biomedicine & biotechnology2011
Cytogenetics of premature ovarian failure: an investigation on 269 affected women.
Article in Journal of biomedicine & biotechnology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 56 citations in OpenAlex.
- Mesenchymal stem cells and platelet rich plasma in the treatment of premature ovarian insufficiency: a scoping review.Contraception and reproductive medicine · 2025Review
- Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.Molecular genetics & genomic medicine · 2023Article
- Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.Endocrine connections · 2023Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.Molecular genetics & genomic medicine · 2022Article
- Article
- Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
- First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.Genes · 2021Article
- Live Birth Rate in Patients With Premature Ovarian Insufficiency During Long-Term Follow-Up Under Hormone Replacement With or Without Ovarian Stimulation.Frontiers in endocrinology · 2021Article
- A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.Journal of assisted reproduction and genetics · 2020Article
- Mosaic Tetrasomy 9p Associated With Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2019Article
- A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p.Balkan journal of medical genetics : BJMG · 2019Article
- X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.Arthritis & rheumatology (Hoboken, N.J.) · 2016Article
- Premature ovarian failure due to tetrasomy X in an adolescent girl.European journal of pediatrics · 2014Article
- Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes.International journal of fertility & sterility · 2014Review
- Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure.Molecular cytogenetics · 2013Article
- Genomic markers of ovarian reserve.Seminars in reproductive medicine · 2013Review
- A retrospective chromosome studies among Iranian infertile women: Report of 21 years.Iranian journal of reproductive medicine · 2013Article
- Investigating the role of X chromosome breakpoints in premature ovarian failure.Molecular cytogenetics · 2012Article
- Genetics of primary ovarian insufficiency: new developments and opportunities.Human reproduction updateReview
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.