Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in WT1 gene and a hemizygous mutation in SRY gene were detected in patients with gonadal dysgenesis.
|
27898418 |
2017 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient's disorder of sexual development.
|
27821113 |
2016 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
|
26871559 |
2015 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms.
|
23624391 |
2013 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely.
|
20699606 |
2011 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
|
20838034 |
2010 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.
|
20453312 |
2010 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This observation of somatic and germinal mosaicism for a SRY mutation may explain the variable penetrance in some familial gonadal dysgenesis.
|
19531589 |
2009 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.
|
19007850 |
2009 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Subsequent study revealed that she is a 46 XY phenotypic female adolescent with complete gonadal dysgenesis and with no alterations of the sex-determining region Y gene.
|
18580319 |
2008 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
|
17493621 |
2007 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype.
|
16675314 |
2007 |
Gonadal Dysgenesis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.
|
15665984 |
2005 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.
|
15155818 |
2004 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis.
|
15211655 |
2004 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The architectural transcription factor SRY (sex-determining region of the Y chromosome) plays a key role in sex determination as indicated by the fact that mutations in SRY are responsible for XY gonadal dysgenesis in humans.
|
12764225 |
2003 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Wilms' tumor 1 (WT1) and sex-determining region of the Y chromosome (SRY) genes are essential for development of the mammalian gonads and mutations in these genes are associated with gonadal dysgenesis in humans.
|
12970737 |
2003 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
|
12483463 |
2002 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis.
|
11780190 |
2001 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
|
10852465 |
2000 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
|
9678356 |
1998 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We found a missense mutation at codon 18 upstream of the 5' border of the HMG box of the SRY gene in one patient with partial gonadal dysgenesis.
|
9521592 |
1998 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome.
|
9341876 |
1997 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.
|
8834258 |
1996 |