Associated Papers
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Stamou MI et al.
Human Genetics, 2025
Gene-environment interaction in functional hypothalamic amenorrhea.
Barbagallo F et al.
Frontiers in Endocrinology, 2024
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X et al.
Human Molecular Genetics, 2023
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
Martinez-Mayer J et al.
Frontiers in Endocrinology, 2023
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sugisawa C et al.
Endocrine Journal, 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
36407308 (PubMed )
Supplement: Table_1.docx
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
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
Cox KH et al.
Human Molecular Genetics, 2018
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
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