Associated Papers
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
Correa FA et al.
European Journal of Human Genetics : Ejhg, 2026
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
Liu Q et al.
Bmc Endocrine Disorders, 2022
Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly.
Stone SI et al.
Journal of the Endocrine Society, 2020
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
Gach A et al.
Reproductive Biology and Endocrinology : Rb&e, 2020
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N et al.
Molecular and Cellular Endocrinology, 2006
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