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New genes controlling human reproduction and how you find them.
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
Reversal of idiopathic hypogonadotropic hypogonadism.
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
A genetic basis for functional hypothalamic amenorrhea.
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Receptors, Fibroblast Growth Factor
Fibroblast Growth Factor 8
Receptor, Fibroblast Growth Factor, Type 1
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
KLB, encoding ß-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Fibroblast Growth Factor 3