|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
|
10084584 |
1999 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
|
11318785 |
2001 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
|
12679486 |
2003 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Herein, we describe a 26-yr-old male with a mild phenotypic form of IHH, the fertile eunuch syndrome (IHH in the presence of normal testicular size and some degree of spermatogenesis), associated with a homozygous mutation (Gln106Arg) in the GnRH-R.
|
11397842 |
2001 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Herein, we describe a 26-yr-old male with a mild phenotypic form of IHH, the fertile eunuch syndrome (IHH in the presence of normal testicular size and some degree of spermatogenesis), associated with a homozygous mutation (Gln106Arg) in the GnRH-R.
|
11397842 |
2001 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
|
11994356 |
2002 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
25077900 |
2014 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
|
10523035 |
1999 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
BEFREE |
GNRHR mutations also appear to cause constitutional delay of puberty, and one genotype (homozygosity for Gln106Arg) may be reversible in patients with IHH.
|
20389088 |
2010 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
|
9425890 |
1998 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
|
11397871 |
2001 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
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.
|
10022417 |
1999 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
|
9371856 |
1997 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
25077900 |
2014 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
|
10084584 |
1999 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
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.
|
10022417 |
1999 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
|
11397871 |
2001 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
BEFREE |
To characterize the phenotype of idiopathic hypogonadotropic hypogonadism due to compound heterozygous GnRHR gene mutations (Arg262Gln/Tyr284Cys).
|
11384641 |
2001 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
BEFREE |
One heterozygous R262Q mutation of the GnRHR gene was identified in one patient with familial IHH.
|
16322390 |
2005 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
|
11994356 |
2002 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
|
11397842 |
2001 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
|
9425890 |
1998 |
|
rs104893837
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
|
10523035 |
1999 |