|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
|
28787711 |
2017 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.
|
20528776 |
2010 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
|
17063144 |
2007 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
|
12793612 |
2003 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
|
12409269 |
2002 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
|
12107262 |
2002 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
|
12107262 |
2002 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.
|
11563911 |
2001 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
0.700 |
GeneticVariation
|
disease |
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 |
|
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 |
|
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 |
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 |
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 |
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 |