Associated Papers
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
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
American Association of Neuropathologists, Inc. Abstracts of the 97th Annual Meeting June 10-13, 2021 St. Louis, Missouri.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2021
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
β-Klotho sustains postnatal GnRH biology and spins the thread of puberty.
Misrahi M
Embo Molecular Medicine, 2017
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical Genetics, 2013
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H et al.
American Journal of Human Genetics, 2013
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.
Doss CG et al.
Applied & Translational Genomics, 2012
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
Miraoui H et al.
Molecular and Cellular Endocrinology, 2011
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.
Mitchell AL et al.
Trends in Endocrinology and Metabolism: Tem, 2011
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
Trarbach EB et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.
Hu Y et al.
Trends in Endocrinology and Metabolism: Tem, 2010
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis GP et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J et al.
The Journal of Clinical Investigation, 2008
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Pitteloud N et al.
The Journal of Clinical Investigation, 2007