Associated Papers
Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.
Szoszkiewicz A et al.
Genes, 2025
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.
Stamou MI et al.
Journal of the Endocrine Society, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
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
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
Stamou M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL et al.
European Journal of Endocrinology, 2019
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.
Ohtaka K et al.
Human Mutation, 2017
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
Tommiska J et al.
European Journal of Medical Genetics, 2014
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
Jarzabek K et al.
Advances in Medical Sciences, 2012
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