|
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 |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
|
rs104893836
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
|
22745237 |
2012 |
|
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
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
|
17235395 |
2007 |
|
rs104893836
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.
|
15728205 |
2005 |
|
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
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
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.
|
12574221 |
2003 |
|
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
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene.
|
12057744 |
2002 |
|
rs104893836
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
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 |
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
|
11318785 |
2001 |
|
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 |
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
|
11397871 |
2001 |
|
rs104893836
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
|
10999776 |
2000 |
|
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 |
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
|
10523035 |
1999 |
|
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 |
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.
|
9425890 |
1998 |
|
rs104893836
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
|
9371856 |
1997 |
|
rs104893836
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
|
9371856 |
1997 |