Swyer Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing.
|
1415266 |
1992 |
Swyer Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).
|
1750489 |
1991 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.
|
7951580 |
1994 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome).
|
8105086 |
1993 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.
|
9341876 |
1997 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her Y chromosome.
|
10803875 |
2000 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out.
|
15183752 |
2005 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis.
|
15665984 |
2005 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SRY gene are reported to be associated with XY pure gonadal dysgenesis.
|
17063144 |
2007 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
|
18990383 |
2009 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained.
|
20838034 |
2010 |
Swyer Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
|
21868002 |
2011 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome.
|
25153220 |
2015 |
Swyer Syndrome
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
|
28030592 |
2016 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
|
28787711 |
2017 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
|
29378242 |
2018 |
Swyer Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
|
31361042 |
2019 |