1 |
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
6
56
|
Maier EM...Kuhnle U
|
12793612 |
2003 |
2 |
XY sex reversal associated with a nonsense mutation in SRY.
56
6
|
McElreavey KD...Fellous M
|
1639410 |
1992 |
3 |
Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.
56
6
|
Muller J...Skakkebaek NE
|
1619028 |
1992 |
4 |
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
56
6
|
Vilain E...Fellous M
|
1570829 |
1992 |
5 |
DNA binding activity of recombinant SRY from normal males and XY females.
56
6
|
Harley VR...Goodfellow PN
|
1734522 |
1992 |
6 |
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
6
56
|
Berkovitz GD...Perlman EJ
|
1956279 |
1991 |
7 |
Genetic evidence equating SRY and the testis-determining factor.
6
56
|
Berta P...Fellous M
|
2247149 |
1990 |
8 |
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.
56
6
|
Jager RJ...Scherer G
|
2247151 |
1990 |
9 |
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
54
61
6
|
Zeng YT...Huang SZ
|
8105086 |
1993 |
10 |
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease.
56
61
|
Passarge E...Wolf U
|
7246614 |
1981 |
11 |
H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis.
61
56
|
Moreira-Filho CA...Wajntal A
|
535902 |
1979 |
12 |
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.
56
|
Norling A...Barbaro M
|
24055526 |
2013 |
13 |
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.
56
|
White S...Sinclair A
|
22071891 |
2012 |
14 |
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
56
|
Fluck CE...Biason-Lauber A
|
21802064 |
2011 |
15 |
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes.
56
|
Lange J...Page DC
|
19737515 |
2009 |
16 |
Nonsyndromic Disorders of Testicular Development
6
|
Mohnach L...Keegan CE
|
20301714 |
2008 |
17 |
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development.
56
|
Dumic M...New MI
|
18000096 |
2008 |
18 |
The makings of maleness: towards an integrated view of male sexual development.
56
|
Wilhelm D...Koopman P
|
16832429 |
2006 |
19 |
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.
56
|
Lee PA...International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
|
16882788 |
2006 |
20 |
Consensus statement on management of intersex disorders.
6
|
Hughes IA...Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group
|
18947601 |
2006 |
21 |
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
6
|
Jordan BK...Vilain E
|
12107262 |
2002 |
22 |
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.
6
|
Schaffler A...Palitzsch KD
|
10852465 |
2000 |
23 |
A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.
6
|
Canto P...Mendez JP
|
10843173 |
2000 |
24 |
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.
6
|
Domenice S...Bilharinho Mendonca B
|
9521592 |
1998 |
25 |
A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function.
6
|
Brown S...Stadtmauer L
|
9443877 |
1998 |
26 |
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
6
|
Dork T...Schmidtke J
|
9450909 |
1998 |
27 |
X-linked sex-reversing genes.
56
|
Wachtel SS
|
9678362 |
1998 |
28 |
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.
6
|
Veitia R...McElreavey K
|
9150734 |
1997 |
29 |
An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction.
6
|
Peters R...Weiss MA
|
7718558 |
1995 |
30 |
Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY.
6
|
Haqq CM...Weiss MA
|
7985018 |
1994 |
31 |
A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal.
6
|
Iida T...Nakagome Y
|
7987333 |
1994 |
32 |
SRVX, a sex reversing locus in Xp21.2-->p22.11.
56
|
Arn P...Wachtel SS
|
8168809 |
1994 |
33 |
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
6
|
Affara NA...Ferguson-Smith MA
|
8353496 |
1993 |
34 |
Mutational analysis of SRY in XY females.
6
|
Hawkins JR
|
8257986 |
1993 |
35 |
A familial mutation in the testis-determining gene SRY shared by both sexes.
6
|
Jager RJ...Scherer G
|
1483689 |
1992 |
36 |
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
6
|
Hawkins JR...Berkovitz GD
|
1415266 |
1992 |
37 |
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.
6
|
Hawkins JR...Goodfellow PN
|
1339396 |
1992 |
38 |
Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome.
56
|
De Arce MA...Humphries P
|
1633643 |
1992 |
39 |
Sex and the single gene.
56
|
Cherfas J
|
2028253 |
1991 |
40 |
Male development of chromosomally female mice transgenic for Sry.
56
|
Koopman P...Lovell-Badge R
|
2030730 |
1991 |
41 |
Expression of a candidate sex-determining gene during mouse testis differentiation.
56
|
Koopman P...Lovell-Badge R
|
2247150 |
1990 |
42 |
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.
56
|
Sinclair AH...Goodfellow PN
|
1695712 |
1990 |
43 |
XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy.
6
|
Lovell-Badge R...Robertson E
|
2401216 |
1990 |
44 |
The sex-determining region of the human Y chromosome encodes a finger protein.
56
|
Page DC...Brown LG
|
3690661 |
1987 |
45 |
Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome.
56
|
Simpson E...Page DC
|
3494951 |
1987 |
46 |
Small deletions of the short arm of the Y chromosome in 46,XY females.
56
|
Disteche CM...Fellous M
|
3464001 |
1986 |
47 |
Gonadoblastoma and Y-chromosome fluorescence.
56
|
Lukusa T...van den Berghe H
|
3720008 |
1986 |
48 |
The gonads of human true hermaphrodites.
56
|
van Niekerk WA...Retief AE
|
6895206 |
1981 |
49 |
XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.
56
|
Simpson JL...Martin AO
|
7286997 |
1981 |
50 |
Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries.
56
|
Bernstein R...Wachtel SS
|
7352285 |
1980 |