ReviewMolecular and cellular endocrinology2013
The genetic basis of female reproductive disorders: etiology and clinical testing.
Review in Molecular and cellular endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic associations with diminished ovarian reserve: a systematic review of the literature.Journal of assisted reproduction and genetics · 2014Pooled it
- Loss of DLGAP5 impairs human and mouse oocyte maturation via disrupting the PI3K-AKT signaling axis.Journal of ovarian research · 2026Article
- Circular RNAs as a novel class of potential therapeutic and diagnostic biomarkers in reproductive biology/diseases.European journal of medical research · 2024Review
- Increased homozygosity due to endogamy results in fitness consequences in a human population.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Article
- A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.Science signaling · 2020Article
- ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome Profile.Endocrinology · 2020Article
- Diagnosis and Treatment Before Assisted Reproductive Treatments. Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Register Number 015-085, February 2019) - Part 2, Hemostaseology, Andrology, Genetics and History of Malignant Disease.Geburtshilfe und Frauenheilkunde · 2019Article
- Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.American journal of human genetics · 2018Article
- Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Fertility and sterility · 2017Article
- A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.Molecular cytogenetics · 2016Article
- Polymorphism of Prophet of Pit-1 gene and its relationship with litter size of Small Tail Han sheep.Journal of genetics · 2015Article
- Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.Endocrine · 2015Article
- NELF knockout is associated with impaired pubertal development and subfertility.Molecular and cellular endocrinology · 2015Article
- Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines.Molecular and cellular endocrinology · 2014Article
- The future for genetic studies in reproduction.Molecular human reproduction · 2014Review
- The Genetics of Infertility: Current Status of the Field.Current genetic medicine reports · 2013Article
- Clinical genetic testing for Kallmann syndrome.The Journal of clinical endocrinology and metabolism · 2013Article
- Erythrocyte membrane antigen frequencies in patients with Type II congenital smell loss.American journal of otolaryngologyArticle
- A genetic marker of the ACKR1 gene is present in patients with Type II congenital smell loss who have type I hyposmia and hypogeusia.American journal of otolaryngologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
With the advent of improved molecular biology techniques, the genetic basis of an increasing number of reproductive disorders has been elucidated. Mutations in at least 20 genes cause hypogonadotropic hypogonadism including Kallmann syndrome in about 35-40% of patients. The two most commonly involved genes are FGFR1 and CHD7. When combined pituitary hormone deficiency includes hypogonadotropic hypogonadism as a feature, PROP1 mutations are the most common of the six genes involved. For hypergonadotropic hypogonadism, mutations in 14 genes cause gonadal failure in 15% of affected females, most commonly in FMR1. In eugonadal disorders, activating FSHR mutations have been identified for spontaneous ovarian hyperstimulation syndrome; and WNT4 mutations have been described in mullerian aplasia. For other eugonadal disorders, such as endometriosis, polycystic ovary syndrome, and leiomyomata, specific germline gene mutations have not been identified, but some chromosomal regions are associated with the corresponding phenotype. Practical genetic testing is possible to perform in both hypogonadotropic and hypergonadotropic hypogonadism and spontaneous ovarian hyperstimulation syndrome. However, clinical testing for endometriosis, polycystic ovary syndrome, and leiomyomata is not currently practical for the clinician.
Indexed as
Identifiers
What OpenQuestion holds
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.