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
Molecular characterization of colorectal cancer (CRC) using next generation sequencing (NGS) in bridging the gap between research and clinical practice: from biomarker discovery to clinical implementation.
Afolabi HA et al.
Discover Oncology, 2025
Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.
Nakamura Y et al.
Nature Medicine, 2025
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.
Nakamura IT et al.
Npj Precision Oncology, 2021
Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients.
Nie M et al.
Clinical Endocrinology, 2021
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL et al.
European Journal of Endocrinology, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Next-generation sequencing of patients with congenital anosmia.
Alkelai A et al.
European Journal of Human Genetics : Ejhg, 2017
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Gu WJ et al.
Experimental Biology and Medicine (maywood, N.j.), 2015
Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium.
Tops BB et al.
Bmc Cancer, 2015
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.
Wang XL et al.
Genetics and Molecular Research : Gmr, 2014
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
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Dodé C et al.
Human Mutation, 2007
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
Trarbach EB et al.
The Journal of Clinical Endocrinology and Metabolism, 2006