PMID 11397842 2001 The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
PMID 11318785 2001 A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
PMID 12679486 2003 Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
PMID 9371856 1997 A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
PMID 16968799 2006 A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
PMID 12574221 2003 Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction.
PMID 29182666 2017 GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
PMID 11397871 2001 Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
PMID 11994356 2002 Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
PMID 22745237 2012 When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
PMID 10084584 1999 Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
PMID 9425890 1998 Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
PMID 28611058 2017 GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
PMID 24732674 2014 Genetics of congenital hypogonadotropic hypogonadism in Denmark.
PMID 22724017 2012 Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
PMID 10022417 1999 When expressed in heterologous cells, both Gln106Arg and Ser217Arg mutations altered hormone binding, whereas the Arg262Gln mutation altered activation of phospholipase C. The propositus, a 30-yr-old man, displayed complete idiopathic hypogonadotropic hypogonadism with extremely low plasma levels of gonadotropins, absence of pulsatility of endogenous LH and alpha-subunit, absence of response to GnRH and GnRH agonist (triptorelin), and absence of effect of pulsatile administration of GnRH.