Associated Papers
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
A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.
Alexandraki KI et al.
Endocrine, 2025
Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment.
Besci Ö et al.
Klinische Padiatrie, 2025
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.
Stamou MI et al.
Journal of the Endocrine Society, 2024
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.
Sano S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Bando H et al.
Frontiers in Endocrinology, 2022
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
Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients.
Nie M et al.
Clinical Endocrinology, 2021
A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.
Erbaş İM et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.
Wen J et al.
Medicine, 2018
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
Therapeutics Targeting FGF Signaling Network in Human Diseases.
Katoh M
Trends in Pharmacological Sciences, 2016
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
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
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
Miraoui H et al.
Molecular and Cellular Endocrinology, 2011
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
FGF signaling: its role in bone development and human skeleton diseases.
Su N et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.
Xu N et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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
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
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
Pitteloud N et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dodé C et al.
Nature Genetics, 2003