ArticleJournal of ovarian research2016
Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.
Article in Journal of ovarian research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 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
- Longitudinal Genome-Wide Association Study for Female Fertility Traits in German Holstein Cattle.Animal genetics · 2026Article
- Major depressive disorder and anti-depressant therapy markedly alters the human follicular niche DNA methylome.Reproduction (Cambridge, England) · 2025Article
- Article
- BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.Journal of assisted reproduction and genetics · 2024Article
- Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing.Journal of assisted reproduction and genetics · 2022Article
- Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
- Alterations in synaptonemal complex coding genes and human infertility.International journal of biological sciences · 2022Review
- Review
- Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.Human reproduction (Oxford, England) · 2021Article
- Meiosis interrupted: the genetics of female infertility via meiotic failure.Reproduction (Cambridge, England) · 2021Review
- Genome-wide association study to identify genomic regions and positional candidate genes associated with male fertility in beef cattle.Scientific reports · 2020Article
- Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.PloS one · 2020Article
- 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
- 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.Journal of human genetics · 2018Article
- Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.Journal of assisted reproduction and genetics · 2018Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOvarian failure (OF) is considered premature if it occurs before the age of 40. This study investigates the genetic aetiology underlying OF in women under the age of 40 years.
methodsWe conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Müllerian Hormone (AMH) and leading to an oocyte donation program.
resultsWe identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function. These genes are principally involved in cell division and chromosome segregation (SYCE1, CLASP1, CENP-A, CDC16), in ciliary development and/or function (RSPH1, KIF24), are linked with known gonadal genes or expressed in female genital tract (CSMD1, SEMA6D, KIAA1324).
conclusionsOur data strengthen the idea that microarrays should be used in combination with karyotype for aetiological assessment of patients with OF. This analysis may have a therapeutic impact as the identification of new molecular actors for gonadal development or ovarian physiology is useful for the prediction of an ovarian reserve decline and makes possible preventive fertility preservation.
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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.