Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Stamou MI et al.
Human Genetics, 2025
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Kardelen AD et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia.
Shillington A et al.
American Journal of Medical Genetics. Part A, 2023
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
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
McCormack SE et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
Castinetti F et al.
European Journal of Endocrinology, 2016
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.
Asakura Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2015
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
Sarfati J et al.
European Journal of Endocrinology, 2013
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
McCabe MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C et al.
Frontiers in Endocrinology, 2013
Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function.
Abreu AP et al.
Molecular Endocrinology (baltimore, Md.), 2012
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011