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
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review.
Sun M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2025
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients.
Nie M et al.
Clinical Endocrinology, 2021
Combined in vitro and in silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism.
Wang D et al.
Clinical Genetics, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys.
Kohva E et al.
Human Reproduction (oxford, England), 2019
Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.
Kohva E et al.
Journal of the Endocrine Society, 2018
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.
Lippincott MF et al.
Journal of the Endocrine Society, 2018
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Molecular and Cellular Endocrinology, 2016
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
Zhu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Sidhoum VF et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.
Rajith B et al.
Applied Biochemistry and Biotechnology, 2013
Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects.
Maione L et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.
Hanchate NK et al.
Plos Genetics, 2012
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Chan YM et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Modulation of Fgfr1a signaling in zebrafish reveals a genetic basis for the aggression-boldness syndrome.
Norton WH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
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
Molecular pathogenesis of Kallmann's syndrome.
Cadman SM et al.
Hormone Research, 2007
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.
Sato N et al.
Human Reproduction (oxford, England), 2005