|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we identified a novel SRY mutation in a 46,XY female patient with complete gonadal dysgenesis, and based on the protein modelling, we propose that the identified mutation could impair normal function of the SRY protein.
|
31361042 |
2019 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the possible pathogenic nature of a novel SRY mutation (p.Y127H) identified in a 46,XY female patient.
|
28787711 |
2017 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
|
27821113 |
2016 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
|
26871559 |
2015 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
|
23624391 |
2013 |
|
46, XY female
|
0.100 |
Biomarker
|
disease |
BEFREE |
Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome.
|
20184645 |
2010 |
|
46, XY female
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, we used a molecular data mining technique to analyze the pathophysiology of an XY female with functional SRY and pericentric inversion of the Y chromosome, and compared the results with those of a normal male.
|
20201967 |
2010 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.
|
19513096 |
2009 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in the SRY gene in a 46, XY female patient.
|
16675314 |
2007 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The SRY high-mobility group domain harbors two nuclear localization signals (NLSs), and here we examine SRY from four XY females with missense mutations in these signals.
|
12764225 |
2003 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.
|
12165453 |
2002 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This substitution affects a highly conserved tyrosine residue in the HMG box of SRY, in which two de novo mutations have been described previously in XY females with PGD.
|
12107262 |
2002 |
|
46, XY female
|
0.100 |
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 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the SRY mutation in the reported XY female occurred de novo and is associated with sex reversal.
|
9341876 |
1997 |
|
46, XY female
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
|
8782045 |
1996 |
|
46, XY female
|
0.100 |
Biomarker
|
disease |
BEFREE |
The SRY gene was identified in the XX males and the TH with a Y chromosome but was not demonstrated in the XY female and the six XX TH.
|
9070386 |
1996 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
|
7717397 |
1995 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we distinguish between these activities by analysis of a mutant SRY associated with human sex reversal (46, XY female with pure gonadal dysgenesis).
|
7718558 |
1995 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that the majority of XY females with pure gonadal dysgenesis owe their sex-reversed phenotype to mutations in as yet uncharacterised segments of the SRY gene, or, at other loci acting early in the sex-determining pathway.
|
8353496 |
1993 |
|
46, XY female
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since the initial use of XY females in the proof of SRY/TDF identity, many more patients have been analysed using different techniques and more mutations identified.
|
8257986 |
1993 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The SRY mutation in the XY female reported here occurred de novo, as sequence analysis showed that it was not present in her father or other family members.
|
8105086 |
1993 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence of SRY mutations in three of five patients suggests that the frequency of SRY mutations in XY females is higher than current estimates.
|
1415266 |
1992 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
XY females (n = 17) were analysed for mutations in SRY (sex-determining region Y gene), a gene that has recently been equated with the testis determining factor (TDF).
|
1339396 |
1992 |
|
46, XY female
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On the assumption that the function of the testis is to produce hormones and spermatozoa, the hypothesis of a single Y-chromosomal testis-determining gene with a dominant effect is shown to run counter to the following observed facts: a lowering in testosterone levels and an increase in the incidence of undescended testes, in addition to sterility, in males with multiple X chromosomes; abnormalities of the testes in autosomal trisomies; phenotypic abnormalities of XX males apparently increasing with decreasing amounts of Y-chromosomal material; the occurrence of patients with gonadal dysgenesis and XY males with ambiguous genitalia in the same sibship; the occurrence of identical SRY mutations in patients with gonadal dysgenesis and fertile males in the same pedigree; and the development of XY female and hermaphrodite mice having the same genetic constitution.
|
1634224 |
1992 |