Associated Papers
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.
Ribeiro AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Cannarella R et al.
International Journal of Molecular Sciences, 2023
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
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
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL et al.
European Journal of Endocrinology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Zwaveling-Soonawala N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome.
Pierzchlewska MM et al.
Endokrynologia Polska, 2017
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
Tommiska J et al.
European Journal of Medical Genetics, 2014
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C et al.
Frontiers in Endocrinology, 2013
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
Martin C et al.
Endocrine Reviews, 2011
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole LW et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
Leroy C et al.
European Journal of Human Genetics : Ejhg, 2008
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007