rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.
|
15800903 |
2005 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.
|
12629128 |
2003 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
|
11788621 |
2002 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
|
11748852 |
2001 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
|
11443184 |
2001 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
|
11113848 |
2000 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Consistent with the patient's mild clinical phenotype, the I439S mutation conferred intermediate levels of repressor activity of DAX-1 when compared with mutations associated with classic AHC.
|
10675358 |
2000 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
|
10848616 |
2000 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.
|
10323730 |
1999 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
|
10341858 |
1999 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
|
9529340 |
1998 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
|
9063431 |
1997 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita.
|
9415399 |
1997 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
|
9360549 |
1997 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.
|
9003500 |
1997 |
rs104894897
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
|
7990958 |
1994 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.
|
15800903 |
2005 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.
|
12629128 |
2003 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
|
11788621 |
2002 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
|
11443184 |
2001 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
|
11748852 |
2001 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
|
10675358 |
2000 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
|
11113848 |
2000 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
|
10848616 |
2000 |
rs28935481
|
|
X-linked Adrenal Hypoplasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
|
10341858 |
1999 |