Idiopathic hypogonadotropic hypogonadism
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our approach "re-discovered" genes previously implicated in IHH (FGFR1, TACR3, GNRHR).
|
30269813 |
2018 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
|
28611058 |
2017 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
|
29182666 |
2017 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
|
26207952 |
2015 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
|
24732674 |
2014 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eleven IHH patients (10%) carried biallelic GNRHR mutations.
|
25016926 |
2014 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
|
22724017 |
2012 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.
|
22405597 |
2012 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
|
22745237 |
2012 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
|
22766261 |
2012 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Prior to 2003, the only gene linked to normosmic IHH was the gonadotropin-releasing hormone receptor gene.
|
19707180 |
2009 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in three genes (KAL1, FGFR1, and GNRHR) comprise most of the known genetic causes of IHH.
|
17543719 |
2007 |
Idiopathic hypogonadotropic hypogonadism
|
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 |
Idiopathic hypogonadotropic hypogonadism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
|
17235395 |
2007 |
Idiopathic hypogonadotropic hypogonadism
|
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 |