Associated Papers
Isolated Congenital Anosmia: Case Report and Literature Review.
Alotaibi NH et al.
Ear, Nose, & Throat Journal, 2025
Genetic Variants in KNDy Pathway Lack Association with Premature Ovarian Insufficiency in Mexican Women: A Sequencing-Based Cohort Study.
Ruiz A et al.
Genes, 2024
Relevance of augmented kisspeptin signaling through H364 KISS1R in central precocious puberty.
Banerjee AA et al.
Gene, 2024
The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.
Toutoudaki K et al.
Children (basel, Switzerland), 2023
A review of the genetics and epigenetics of central precocious puberty.
Moise-Silverman J et al.
Frontiers in Endocrinology, 2022
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
34539727 (PubMed )
Supplement: Table_2.XLSX › Feuil1
MKRN3 and KISS1R mutations in precocious and early puberty.
Pagani S et al.
Italian Journal of Pediatrics, 2020
Novel DNA variation of GPR54 gene in familial central precocious puberty.
Ghaemi N et al.
Italian Journal of Pediatrics, 2019
Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty.
Oh YJ et al.
Journal of Korean Medical Science, 2017
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.
Wahab F et al.
Molecular and Cellular Endocrinology, 2011
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
Nimri R et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.
Teles MG et al.
European Journal of Endocrinology, 2010
Human genetics of GPR54.
Cerrato F et al.
Reviews in Endocrine & Metabolic Disorders, 2007
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Semple RK et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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