| 1 |
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
61
|
Zhang YJ...Thiagarajah JR
|
33526876 |
2021 |
| 2 |
A rare case of 46, XX (SRY positive) testicular disorder of sex development with growth hormone deficiency: Case report.
61
|
Li H...Leong I
|
33578586 |
2021 |
| 3 |
Could Aberrant Migration Explain Metachronous Germ Cell Tumors?
61
|
Kubicek P...Faure-Conter C
|
33017201 |
2021 |
| 4 |
A Disorder of Sex Development in a Holstein-Friesian Heifer with a Rare Mosaicism (60,XX/90,XXY): A Genetic, Anatomical, and Histological Study.
61
|
Szczerbal I...Switonski M
|
33498673 |
2021 |
| 5 |
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
61
|
Ushijima K...Narumi S
|
33399274 |
2021 |
| 6 |
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan.
61
|
Khan S...Yaqoob M
|
33437285 |
2021 |
| 7 |
A rare case of primary amenorrhoea and breast development in a 46,XY 15-year-old girl.
61
|
Morawiecka-Pietrzak M...Ziora K
|
33599439 |
2021 |
| 8 |
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
61
|
Lugli L...Berardi A
|
33394555 |
2021 |
| 9 |
Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review.
61
|
Godfrey LM
|
32133887 |
2021 |
| 10 |
17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.
61
|
Faienza MF...Bertelloni S
|
32297288 |
2020 |
| 11 |
Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I.
61
|
Hassan HA...Mazen I
|
32666356 |
2020 |
| 12 |
Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.
61
|
Akar OS...Ogur G
|
32882067 |
2020 |
| 13 |
Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review.
61
|
Tangshewinsirikul C...Wattanasirichaigoon D
|
32733741 |
2020 |
| 14 |
A novel approach in the intraoperative management of ovotesticular DSD.
61
|
Delforge X...Khelif K
|
33268315 |
2020 |
| 15 |
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.
61
|
Naumova OY...Grigorenko EL
|
33363845 |
2020 |
| 16 |
[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].
61
|
Liu A...Li L
|
33306833 |
2020 |
| 17 |
Male pseudohermaphrodite with persistent Mullerian duct: A radiologist's and patient's dilemma alike.
61
|
Kaur R...Vermani S
|
33368453 |
2020 |
| 18 |
Gonadoblastoma versus ovarian mixed germ cell-sex cord stromal tumor in women or girls with no evidence of a disorder of sex development: A problem in differential diagnosis.
61
|
Roth LM...Cheng L
|
33002849 |
2020 |
| 19 |
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
61
|
Al Shamsi A...Mhanni A
|
32986312 |
2020 |
| 20 |
Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development.
61
|
Oliveira LR...Guerra-Junior G
|
33112837 |
2020 |
| 21 |
The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome.
61
|
Ilaslan E...Kusz-Zamelczyk K
|
33182400 |
2020 |
| 22 |
Analysis of transcript and methylation levels of INSL3 and RXFP2 in undescended and descended dog testes suggested promising biomarkers associated with cryptorchidism.
61
|
Nowacka-Woszuk J...Stachowiak M
|
32898823 |
2020 |
| 23 |
Altered expression of CYP17A1 and CYP19A1 in undescended testes of dogs with unilateral cryptorchidism.
61
|
Krzeminska P...Switonski M
|
32657440 |
2020 |
| 24 |
46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report.
61
|
Li Z...Wang J
|
33019456 |
2020 |
| 25 |
Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.
61
|
Igarashi M...Fukami M
|
33060765 |
2020 |
| 26 |
Individualized care for patients with intersex (disorders/differences of sex development): Part 3.
61
|
Bangalore Krishna K...Lee PA
|
32605872 |
2020 |
| 27 |
Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report.
61
|
Zhang Y...Ma Y
|
33019396 |
2020 |
| 28 |
Isolated Clitoromegaly (Prader Stage 1 Genitalia) in Unilateral Variety of Ovotesticular Disorder of Sex Development.
61
|
Mishra C...Maiti A
|
33079340 |
2020 |
| 29 |
A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
61
|
Mengen E...Ucakturk SA
|
31476840 |
2020 |
| 30 |
Teratoma Associated With Testicular Tissue in a Female-Like Horse With 64,XY (SRY-Positive) Disorder of Sex Development.
61
|
Sant'Anna Monteiro da Silva E...Lima Silveira da Mota LS
|
32797799 |
2020 |
| 31 |
Laparoscopic gonadectomy in dogs with ovotesticular disorder of sexual development.
61
|
Vallarino N...van Goethem B
|
32599672 |
2020 |
| 32 |
Hormonal suppression of mini-puberty in a neonate with mosaic 45X/46XY disorder of sexual development.
61
|
Kaefer M...Eugster E
|
32435594 |
2020 |
| 33 |
SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor.
61
|
Osaka A...Saito K
|
33131361 |
2020 |
| 34 |
Proximal Hypospadias-Isolated Genital Condition or Marker of More?
61
|
Johnson EK...Cheng EY
|
32091304 |
2020 |
| 35 |
Gonadoblastoma in individuals with a normal karyotype and no evidence of a disorder of sex development.
61
|
Roth LM...Cheng L
|
32616344 |
2020 |
| 36 |
Prostatic Metaplasia of the Vagina and Uterine Cervix: An Androgen-associated Glandular Lesion of Surface Squamous Epithelium.
61
|
Anderson WJ...Vargas SO
|
32282346 |
2020 |
| 37 |
Disorder of Sex Development: A Case of Late-Diagnosed Ovotestis and Its Postsurgical Follow-up.
61
|
Bruno ZV...Dias MTPM
|
32224245 |
2020 |
| 38 |
Barriers in access to healthcare services for individuals with disorders of sex differentiation in Bangladesh: an analysis of regional representative cross-sectional data.
61
|
Khan A...Khan MN
|
32811451 |
2020 |
| 39 |
Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual.
61
|
Pattamshetty P...Mohan V
|
32685420 |
2020 |
| 40 |
Application of droplet digital PCR in diagnosing of X monosomy in mares.
61
|
Szczerbal I...Switonski M
|
31793061 |
2020 |
| 41 |
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
61
|
Askari M...Totonchi M
|
32271476 |
2020 |
| 42 |
46, XY disorder of sex development (DSD) complicated by a serous borderline tumor of the ovary: a case report and review of the literature.
61
|
Zhao J...Pang X
|
32703224 |
2020 |
| 43 |
Gonadoblastoma: origin and outcome.
61
|
Roth LM...Cheng L
|
31805291 |
2020 |
| 44 |
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
61
|
Mengen E...Ucakturk SA
|
31208161 |
2020 |
| 45 |
The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency.
61
|
Sipila P...Poutanen M
|
32190925 |
2020 |
| 46 |
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
61
|
Rafigh M...Abbaszadegan MR
|
32449406 |
2020 |
| 47 |
Haematological chimerism masquerading as disorder of sex development.
61
|
Sakka SD...Arya VB
|
31943282 |
2020 |
| 48 |
Demetylation of the sex-determining region Y gene promoter and incidence of disorder of sex development in cloned dog males.
61
|
Hwang KC...Hwang WS
|
32991314 |
2020 |
| 49 |
Disorder of sex development with germ cell tumors: Which is uncovered first?
61
|
Faure-Conter C...Morel Y
|
32020769 |
2020 |
| 50 |
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
61
|
Avendano A...Ceballos JO
|
31613402 |
2020 |
Rare endocrine diseases 
