1 |
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
5
|
Eggers S...Sinclair AH
|
27899157 |
2016 |
2 |
Genotype versus phenotype in families with androgen insensitivity syndrome.
5
|
Boehmer AL...Drop SL
|
11549642 |
2001 |
3 |
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
53
62
|
Marchina E...Barlati S
|
18990383 |
2009 |
4 |
Identification of a novel mutation in the SRY gene in a 46, XY female patient.
53
62
|
Salehi LB...Stuppia L
|
16675314 |
2006 |
5 |
Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimüllerian hormone in utero: a case report.
53
62
|
Kahyaoglu S...Batioglu S
|
16846094 |
2006 |
6 |
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.
53
62
|
Kellermayer R...Kosztolanyi G
|
16106197 |
2005 |
7 |
Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome).
53
62
|
Iliopoulos D...Voyiatzis N
|
15183752 |
2004 |
8 |
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.
53
62
|
Lim HN...Hawkins JR
|
11153920 |
2000 |
9 |
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.
53
62
|
Battiloro E...D'Ambrosio E
|
9341876 |
1997 |
10 |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
53
62
|
Meyer J...Scherer G
|
9002675 |
1997 |
11 |
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
53
62
|
Zeng YT...Huang SZ
|
8105086 |
1993 |
12 |
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).
53
62
|
Behzadian MA...McDonough PG
|
1750489 |
1991 |
13 |
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
62
|
Croft B...Harley VR
|
36349847 |
2022 |
14 |
Fertility in Individuals with Differences in Sex Development: Provider Knowledge Assessment.
62
|
Finlayson C...Gomez-Lobo V
|
35296452 |
2022 |
15 |
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
62
|
Saini N...Aggarwal S
|
36271814 |
2022 |
16 |
Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis.
62
|
Yu PH...Kuo PL
|
36088066 |
2022 |
17 |
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
62
|
Meinel JA...Werner R
|
36227713 |
2022 |
18 |
SOX9 in organogenesis: shared and unique transcriptional functions.
62
|
Ming Z...Harley V
|
36114905 |
2022 |
19 |
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated to 46,XY Gonadal Dysgenesis.
62
|
Rjiba K...Mougou-Zerelli S
|
35984215 |
2022 |
20 |
The Mysteries of Primary Amenorrhea: Swyer Syndrome.
62
|
Cherukuri S...Andela M
|
36158407 |
2022 |
21 |
SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees.
62
|
Ogawa Y...Takada S
|
35921234 |
2022 |
22 |
Ulerythema ophryogenes in association with MAP3K1-mutated Swyer syndrome.
62
|
Nimgaonkar I...Milgraum SS
|
35755173 |
2022 |
23 |
Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report.
62
|
Ashraf Ganjooei T...Hashemieh M
|
35846908 |
2022 |
24 |
A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis.
62
|
Winkler I...Skrzypczak M
|
35564421 |
2022 |
25 |
Role of the X and Y Chromosomes in the Female Germ Cell Line Development in the Mouse (Mus musculus).
62
|
Yamazaki W...Taketo T
|
35235936 |
2022 |
26 |
Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.
62
|
Chen G...Qiao S
|
34700362 |
2022 |
27 |
A nonfunctional copy of the salmonid sex-determining gene (sdY) is responsible for the "apparent" XY females in Chinook salmon, Oncorhynchus tshawytscha.
62
|
Bertho S...Guiguen Y
|
35100376 |
2022 |
28 |
WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.
62
|
Craver R...C Roth C
|
35199613 |
2022 |
29 |
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
62
|
Altunoglu U...Kayserili H
|
34750818 |
2022 |
30 |
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review.
62
|
Zhang W...Wu X
|
35812758 |
2022 |
31 |
Genetics of 46,XY gonadal dysgenesis.
62
|
Elzaiat M...Bashamboo A
|
35249806 |
2022 |
32 |
DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis.
62
|
Zarkower D...Murphy MW
|
34515237 |
2022 |
33 |
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
62
|
Ostrer H
|
35290982 |
2022 |
34 |
A 15-20-year follow-up of mental health, psychosocial functioning and quality of life in a single center sample of individuals with differences in sex development.
62
|
Waehre A...Diseth T
|
36105256 |
2022 |
35 |
DHX37 and 46,XY DSD: A New Ribosomopathy?
62
|
McElreavey K...Bashamboo A
|
35835064 |
2022 |
36 |
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
62
|
Mazen I...Abdel-Hamid MS
|
35045414 |
2022 |
37 |
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.
62
|
Pan L...Wen P
|
36072668 |
2022 |
38 |
Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.
62
|
Lu L...Wang X
|
35935368 |
2022 |
39 |
Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity.
62
|
Chen YS...Weiss MA
|
35957822 |
2022 |
40 |
The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.
62
|
Pachernegg S...Ayers K
|
34518472 |
2022 |
41 |
Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.
62
|
Jakovleva A...Kovalova Z
|
35720238 |
2022 |
42 |
Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube.
62
|
Anwar A...Busby G
|
33989803 |
2021 |
43 |
Bilateral Gonadoblastoma Overgrown by Dysgerminoma of the Right Gonad in a Patient with Swyer Syndrome.
62
|
Arafa M...Al-Kindi N
|
35261680 |
2021 |
44 |
Swyer Syndrome/46 XY Gonadal Dysgenesis: Remove the Tubes or Not?
62
|
Fallat ME...Klipstein S
|
34742465 |
2021 |
45 |
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
62
|
Cicek D...Guran T
|
34714774 |
2021 |
46 |
Unusual Mammalian Sex Determination Systems: A Cabinet of Curiosities.
62
|
Saunders PA...Veyrunes F
|
34828376 |
2021 |
47 |
Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome - a case report.
62
|
Urban A...Smolarczyk R
|
34703418 |
2021 |
48 |
On the Form and Origins of the Bizarre Sex Chromosomal System of the Mandarin Vole.
62
|
Roy SW
|
33884423 |
2021 |
49 |
A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.
62
|
Matusik P...Gawlik A
|
34281122 |
2021 |
50 |
Mode of delivery of women with Swyer syndrome in a German case series.
62
|
Weisshaupt K...Weichert A
|
33725759 |
2021 |