Associated Papers
Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants.
Stuckey BGA et al.
Genes, 2023
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.
Al Sayed Y et al.
European Journal of Human Genetics : Ejhg, 2023
GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.
Patil VA et al.
Neuroendocrinology, 2022
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.
Brachet C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Molecular and Genetic Aspects of Congenital Isolated Hypogonadotropic Hypogonadism.
Lima Amato LG et al.
Endocrinology and Metabolism Clinics of North America, 2017
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Molecular and Cellular Endocrinology, 2016
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.
Mengen E et al.
Hormone Research in Paediatrics, 2016
Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.
Marino M et al.
International Journal of Endocrinology, 2014
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H et al.
American Journal of Human Genetics, 2013
R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.
Maione L et al.
Plos One, 2013
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.
Chan YM
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
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