ReviewJournal of medical genetics2002
Human gene mutations causing infertility.
Review in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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
28 citing papers in PubMed, 165 citations in OpenAlex.
- Genomic signatures of selection in drug metabolizing genes across cattle populations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Article
- Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.Frontiers in immunology · 2021Review
- DNA Damage and Repair in Human Reproductive Cells.International journal of molecular sciences · 2018Review
- Autosomal single-gene disorders involved in human infertility.Saudi journal of biological sciences · 2018Article
- Adrenal cortex expression quantitative trait loci in a German Holstein × Charolais cross.BMC genetics · 2016Article
- Article
- Review
- Clinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction.Journal of assisted reproduction and genetics · 2015Review
- Polymorphism analysis in estrogen receptors alpha and beta genes and their association with infertile population in Pakistan.EXCLI journal · 2015Article
- Urinary estrogen metabolites and self-reported infertility in women infected with Schistosoma haematobium.PloS one · 2014Article
- Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horses.PloS one · 2014Article
- The genetic basis of female reproductive disorders: etiology and clinical testing.Molecular and cellular endocrinology · 2013Review
- Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.Journal of medical case reports · 2012Article
- Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.Fertility and sterility · 2012Review
- Genome-wide association study identifies candidate genes for male fertility traits in humans.American journal of human genetics · 2012Article
- Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypes.Case reports in genetics · 2012Article
- How contemporary human reproductive behaviors influence the role of fertility-related genes: the example of the p53 gene.PloS one · 2012Article
- Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.Reproductive biology and endocrinology : RB&E · 2010Article
- Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.Frontiers of hormone research · 2010Review
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 at 1 institution in 1 country.
Funding
Abstract
The identification of gene mutations causing infertility in humans remains noticeably deficient at present. Although most males and females with infertility display normal pubertal development, nearly all of the gene mutations in humans have been characterised in people with deficient puberty and subsequent infertility. Gene mutations are arbitrarily categorised into four different compartments (I, hypothalamic; II, pituitary; III, gonadal; and IV, outflow tract). Diagnoses of infertility include hypogonadotrophic hypogonadism (compartments I and II), hypergonadotrophic hypogonadism (III), and obstructive disorders (compartment IV). Most gene mutations identified to date affect gonadal function, but it is also apparent that a large number of important genes in normal fertility have yet to be realised.
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.