|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.
|
11391350 |
2001 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
|
11134146 |
2000 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.
|
9467560 |
1998 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
|
9661624 |
1998 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.
|
8929952 |
1996 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
|
8829636 |
1996 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.
|
7714085 |
1995 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
|
7629248 |
1995 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
|
7757065 |
1995 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
|
8281137 |
1993 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.
|
7692306 |
1993 |
|
Familial Testotoxicosis
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Testotoxicosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we described the long-term follow-up of a 24-year-old young man with severe testotoxicosis due to a de novo activating mutation in the third transmembrane helix of the LHCGR (p.Leu457Arg).
|
29538680 |
2018 |
|
Leydig Cell Hypoplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |
|
Adenoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |
|
Leydig cell hyperplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |
|
Leydig cell agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |