Associated Papers
Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.
Kałużna M et al.
Endocrine Connections, 2025
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E 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
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T et al.
European Journal of Endocrinology, 2021
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Cioppi F et al.
Andrology, 2019
Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.
Stamou MI et al.
European Journal of Endocrinology, 2017
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Gianetti E et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.
Tello JA et al.
Plos One, 2012
GnRH receptor mutations in isolated gonadotropic deficiency.
Chevrier L et al.
Molecular and Cellular Endocrinology, 2011
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.
Kim HG et al.
Frontiers of Hormone Research, 2010
The gonadotropin-releasing hormone (GnRH)-1 gene, the GnRH receptor gene, and their promoters in patients with idiopathic hypogonadotropic hypogonadism with or without resistance to GnRH action.
Vagenakis GA et al.
Fertility and Sterility, 2005