Associated Papers
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
Review of human genetic and clinical studies directly relevant to GnRH signalling.
Seminara SB et al.
Journal of Neuroendocrinology, 2022
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M et al.
Human Molecular Genetics, 2012
The genes associated with gonadotropin-releasing hormone-dependent precocious puberty.
Hwang JS
Korean Journal of Pediatrics, 2012
Genetics defects in GNRH1: a paradigm of hypothalamic congenital gonadotropin deficiency.
Bouligand J et al.
Brain Research, 2010
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF et al.
Molecular and Cellular Endocrinology, 2010
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
Young J et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.
Brioude F et al.
European Journal of Endocrinology, 2010
[GNRH1 mutation in familial hypogonadotropic hypogonadism].
Bouligand J et al.
Medecine Sciences : M/s, 2009
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
Bouligand J et al.
The New England Journal of Medicine, 2009
Select a paper to view details