|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
|
28611058 |
2017 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
|
29182666 |
2017 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
|
26207952 |
2015 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
|
24732674 |
2014 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.
|
22405597 |
2012 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
|
22745237 |
2012 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
|
22724017 |
2012 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.
|
22766261 |
2012 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
|
17235395 |
2007 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
|
16968799 |
2006 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.
|
15728205 |
2005 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.
|
12568864 |
2003 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
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 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism.
|
12364481 |
2002 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene.
|
12057744 |
2002 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
|
11397842 |
2001 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
|
11397871 |
2001 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
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 |
|
UBA6-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.
|
9371856 |
1997 |