ArticleHuman reproduction (Oxford, England)2010
Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF).
Article in Human reproduction (Oxford, England), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Fertility issues and pregnancy outcomes in females with partial X-chromosome deletions: a retrospective observational cohort study.BMC pregnancy and childbirth · 2025Observational
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome.Cell death discovery · 2024Article
- BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.Journal of assisted reproduction and genetics · 2024Article
- Turner Syndrome where are we?Orphanet journal of rare diseases · 2024Review
- Article
- Organ Abnormalities Caused by Turner Syndrome.Cells · 2023Review
- Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.Frontiers in medicine · 2023Review
- Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.Human reproduction (Oxford, England) · 2021Article
- Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2021Article
- Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome.Reproductive sciences (Thousand Oaks, Calif.) · 2020Article
- Progress in Fertility Preservation Strategies in Turner Syndrome.Frontiers in medicine · 2020Review
- Fertility Costs of Meiotic Drivers.Current biology : CB · 2019Review
- High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.Human reproduction (Oxford, England) · 2019Article
- Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.Journal of pediatric and adolescent gynecology · 2016Review
- Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.Human reproduction (Oxford, England) · 2016Article
- Genetics of primary ovarian insufficiency: a review.Journal of assisted reproduction and genetics · 2014Review
- Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.Human reproduction (Oxford, England) · 2014Article
- Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.Human reproduction (Oxford, England) · 2014Article
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8 authors at 3 institutions in 1 country.
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Abstract
backgroundPremature ovarian failure (POF) is a heterogeneous disease defined as amenorrhoea for >6 months before age 40, with an FSH serum level >40 mIU/ml (menopausal levels). While there is a strong genetic association with POF, familial studies have also indicated that idiopathic POF may also be genetically linked. Conventional cytogenetic analyses have identified regions of the X chromosome that are strongly associated with ovarian function, as well as several POF candidate genes. Cryptic chromosome abnormalities that have been missed might be detected by array comparative genomic hybridization.
methodsIn this study, samples from 42 idiopathic POF patients were subjected to a complete end-to-end X/Y chromosome tiling path array to achieve a detailed copy number variation (CNV) analysis of X chromosome involvement in POF. The arrays also contained a 1 Mb autosomal tiling path as a reference control. Quantitative PCR for selected genes contained within the CNVs was used to confirm the majority of the changes detected. The expression pattern of some of these genes in human tissue RNA was examined by reverse transcription (RT)-PCR.
resultsA number of CNVs were identified on both Xp and Xq, with several being shared among the POF cases. Some CNVs fall within known polymorphic CNV regions, and others span previously identified POF candidate regions and genes.
conclusionsThe new data reported in this study reveal further discrete X chromosome intervals not previously associated with the disease and therefore implicate new clusters of candidate genes. Further studies will be required to elucidate their involvement in POF.
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