Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Stamou MI et al.
Human Genetics, 2025
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.
Lattanzi R et al.
Life (basel, Switzerland), 2024
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.
Wang S et al.
Frontiers in Endocrinology, 2024
Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.
Kałużna M 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
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G et al.
Plos One, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sugisawa C et al.
Endocrine Journal, 2022
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Zidoune H et al.
Frontiers in Genetics, 2022
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.
Brauner R et al.
Frontiers in Pediatrics, 2021
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.
Vergier J et al.
European Journal of Endocrinology, 2019
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.
Lippincott MF et al.
Journal of the Endocrine Society, 2018
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
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 2016
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa FA et al.
Endocrine Connections, 2015
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
Zhu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
Sbai O et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
Genomic profile analysis of diffuse-type gastric cancers.
Lee YS et al.
Genome Biology, 2014
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Sidhoum VF et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
PROKR2 mutations in autosomal recessive Kallmann syndrome.
Tommiska J et al.
Fertility and Sterility, 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
PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.
Moya-Plana A et al.
European Journal of Endocrinology, 2013
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C et al.
Frontiers in Endocrinology, 2013
Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.
Vizeneux A et al.
Plos One, 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
G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.
Noel SD et al.
Molecular and Cellular Endocrinology, 2011
Expanding the phenotype and genotype of female GnRH deficiency.
Shaw ND et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Sarfati J et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.
Abreu AP et al.
Neuroendocrinology, 2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.
Monnier C et al.
Human Molecular Genetics, 2009
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
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dodé C et al.
Plos Genetics, 2006