Associated Papers
Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.
Correa FA et al.
European Journal of Human Genetics : Ejhg, 2026
Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.
DiPeri TP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
Li X et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations.
Li S et al.
Reproductive Sciences (thousand Oaks, Calif.), 2021
Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations.
Li S et al.
International Journal of Endocrinology, 2020
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.
Stamou MI et al.
European Journal of Endocrinology, 2017
FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).
Katoh M
International Journal of Molecular Medicine, 2016
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.
Gonçalves C et al.
Fertility and Sterility, 2015
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
Sarfati J et al.
Orphanet Journal of Rare Diseases, 2015
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical 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
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.
Entrala-Bernal C et al.
Hormones (athens, Greece), 0