×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
Biomarker
disease
BEFREE
Our approach "re-discovered" genes previously implicated in IHH (FGFR1, TACR3, GNRHR ).
30269813
2018
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.
29777911
2018
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
28611058
2017
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
29182666
2017
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
26207952
2015
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
Biomarker
disease
BEFREE
In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR ) in four KS with CLP patients and six IHH patients without CLP.
26199944
2015
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
UNIPROT
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
25077900
2014
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
24732674
2014
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Six of the twelve subjects had an identified genetic cause of their IHH : KAL1 (n = 1), FGFR1 (n = 3), PROKR2 (n = 1), GNRHR (n = 1).
25226293
2014
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Eleven IHH patients (10%) carried biallelic GNRHR mutations.
25016926
2014
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
UNIPROT
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
23643382
2013
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
22724017
2012
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
To identify and determine the frequency of mutations in the coding region of the gonadotropin-releasing hormone receptor (GnRHR ) gene in forty Chinese patients with normosmic idiopathic hypogonadotropic hypogonadism (IHH ) and establish genotype/phenotype correlations where possible.
23155690
2012
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.
22405597
2012
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
22745237
2012
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
22766261
2012
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Mutations in the human GNRHR gene have contributed greatly to the understanding of normosmic IHH , as well as the structure and function of the GnRHR.
20389088
2010
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Mutations in GNRH1, KISS1R and GNRHR genes cause normosmic IHH , interfering with the normal synthesis, secretion or action of GnRH.
20188792
2010
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Prior to 2003, the only gene linked to normosmic IHH was the gonadotropin-releasing hormone receptor gene.
19707180
2009
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH /KS.
18463157
2008
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH , in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR ) mutation in pedigree 2, both of which varied markedly in expressivity within and across families.
17235395
2007
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
Biomarker
disease
BEFREE
Mutations in three genes (KAL1, FGFR1, and GNRHR ) comprise most of the known genetic causes of IHH .
17543719
2007
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
The molecular basis of IHH /KS is reviewed, with particular emphasis on the three most common genes ( KAL1, FGFR1, and GNRHR ) that possess mutations in these patients.
17594608
2007
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
CausalMutation
disease
CLINVAR
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
17235395
2007
×
Entrez Id:
2798
Gene Symbol:
GNRHR
GNRHR
1.000
GeneticVariation
disease
BEFREE
During the last 10 years, 21 loss-of-function GNRHR mutations have been identified in patients with idiopathic hypogonadotropic hypogonadism .
17710733
2007