×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
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
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
17063144
2007
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
12793612
2003
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
12107262
2002
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.
11563911
2001
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
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
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.
10843173
2000
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
10721678
2000
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.
10670762
1999
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
9450909
1998
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
9678356
1998
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.
9521592
1998
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
7717397
1995
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.
7776083
1995
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Description and functional implications of a novel mutation in the sex-determining gene SRY.
8019555
1994
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.
7985018
1994
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
8447323
1993
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
8353496
1993
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
8105086
1993
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
1415266
1992
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
1339396
1992
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
A familial mutation in the testis-determining gene SRY shared by both sexes.
1483689
1992
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
1570829
1992
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
0.700
GeneticVariation
UNIPROT
Genetic evidence equating SRY and the testis-determining factor.
2247149
1990