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
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
MDM2 amplification is rare in gastric cancer.
Abdullazade S et al.
Virchows Archiv : an International Journal of Pathology, 2023
The evaluation of ovarian function in normosmic idiopathic hypogonadotropic hypogonadism with a fibroblast growth factor receptor 1 mutation: a case report.
Wang L et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2022
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Men M et al.
Fertility and Sterility, 2020
PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.
Yokota T et al.
Bmc Cancer, 2018
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Koika V et al.
Gene, 2013
Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.
Rajith B et al.
Applied Biochemistry and Biotechnology, 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
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Tornberg J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Peptide YY (PYY) Gene Polymorphisms in the 3'-Untranslated Region and Proximal Promoter Regions Regulate Cellular Gene Expression and PYY Secretion and Metabolic Syndrome Traits in Vivo.
Shih PB et al.
Endocrine Reviews, 2009
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J et al.
The Journal of Clinical Investigation, 2008