|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.
|
2247151 |
1990 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Genetic evidence equating SRY and the testis-determining factor.
|
2247149 |
1990 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
|
1415266 |
1992 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
|
1339396 |
1992 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A familial mutation in the testis-determining gene SRY shared by both sexes.
|
1483689 |
1992 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
"XY sex reversal associated with a deletion 5' to the SRY ""HMG box"" in the testis-determining region."
|
1438307 |
1992 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A familial mutation in the testis-determining gene SRY shared by both sexes.
|
1483689 |
1992 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
|
1570829 |
1992 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
|
8105086 |
1993 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.
|
7985018 |
1994 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal.
|
7987333 |
1994 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Description and functional implications of a novel mutation in the sex-determining gene SRY.
|
8019555 |
1994 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.
|
7985018 |
1994 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Description and functional implications of a novel mutation in the sex-determining gene SRY.
|
8019555 |
1994 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
|
7717397 |
1995 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.
|
7776083 |
1995 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction.
|
7718558 |
1995 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
|
9450909 |
1998 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
|
9678356 |
1998 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.
|
10670762 |
1999 |