Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
Gonadal Dysgenesis, 46,XY
|
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 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report a case of mixed GD due to a novel SRY point mutation in a patient with a 46,XY karyotype, without mosaicism or submicroscopic genomic imbalances.
|
22441105 |
2012 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In 10-15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA.
|
22815844 |
2012 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
|
22288726 |
2012 |
Gonadal Dysgenesis, 46,XY
|
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 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SRY mutations residing in the HMG domain are found in 10-15% of 46,XY gonadal dysgenesis cases.
|
19513096 |
2009 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
|
18990383 |
2009 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
|
18990383 |
2009 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Second, the location of the mutation was in the HMG box region of the SRY gene, in contrast to the other partial cases of 46,XY gonadal dysgenesis.
|
17493621 |
2007 |
Gonadal Dysgenesis, 46,XY
|
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 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SRY gene have been considered to account for only 10-15% of 46,XY gonadal dysgenesis cases, whereas the majority of the remaining cases may have mutation(s) in the SRY regulatory elements or other genes involved in the sex differentiation pathway.
|
15155818 |
2004 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis.
|
15008251 |
2003 |
Gonadal Dysgenesis, 46,XY
|
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 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis.
|
10821226 |
2000 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the sex-determining region of the Y chromosome (the SRY gene) have been reported in low frequency in patients with 46,XY gonadal dysgenesis.
|
9521592 |
1998 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.
|
9341876 |
1997 |
Gonadal Dysgenesis, 46,XY
|
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 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Approaches for evaluating SRY as a candidate for TDF included the finding of mutations in SRY in the genomes of patients with failed testis development (XY females or 46,XY gonadal dysgenesis) and the production of female to male sex reversed mice transgenic for the mouse homologue of SRY, [Sry].
|
8257986 |
1993 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate the role of SRY in the determination of the testis, we sequenced the conserved domain of the SRY gene in 8 patients with 46,XY gonadal dysgenesis and 3 patients with related disorders, and compared our data with those obtained in 6 other similar studies.
|
1487248 |
1992 |
Gonadal Dysgenesis, 46,XY
|
0.400 |
Biomarker
|
disease |
BEFREE |
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).
|
1750489 |
1991 |