Disease: Gonadal dysgenesis- XY female type
- 17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene
- 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
- 46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma
- 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism
- 46,XY female sex reversal patient with a novel point mutation in the coding sequence of the SRY gene
- 46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
- 46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis
- A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation
- A Case of Primary Amenorrhea with Swyer Syndrome
- A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes
- A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father
- A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome
- A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing
- A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis
- A novel mouse Fgfr2 mutant, hobbyhorse (hob), exhibits complete XY gonadal sex reversal
- A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis
- A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis
- A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency
- A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea
- A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis
- A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
- Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD)
- An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction
- Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis
- Atypical Presentation of Swyer Syndrome
- Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal
- Causes of ambiguous external genitalia in neonates
- Chromosomal aberrations in women with primary and secondary amenorrhea: A cross-sectional study
- Chromosome studies in gynecology
- Clinical and epidemiological description of aortic dissection in Turner's syndrome
- Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
- Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency
- Coexistence of hereditary angioedema and Turner's syndrome
- Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation
- Congenital adrenal hyperplasia causing hypertension: an illustrative review
- Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis
- Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development
- Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys)
- Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations
- Description of diagnosis of 45,X/46,XY ovotesticular DSD
- Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD
- Disorders of sexual development in the cat: Current state of knowledge and diagnostic approach
- Distribution of sex chromosomes in dysgenetic gonads of mixed type
- Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life
- Fertility preservation in a family with a novel NR5A1 mutation
- FGFR2 mutation in 46,XY sex reversal with craniosynostosis
- Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea
- Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression
- Genetic Causes of Rare Pediatric Ovarian Tumors
- Gonadoblastomas in 45,X/46,XY mosaicism: analysis of Y chromosome distribution by fluorescence in situ hybridization
- Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR
- Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues
- Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import
- Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa)
- Malignant germ cell tumor in XY gonadal dysgenesis (Swyer syndrome)
- Malignant Gonadal Germ Cell Tumors (Other Than Pure Germinoma) in Patients With Disorders of Sex Development: A Report of 21 Cases Based Largely on the Collection of Dr Robert E. Scully, Illustrating a High Frequency of Yolk Sac Tumor With Prominent Hepat
- Mixed germ cell tumor of ovary and clitoromegaly in Swyer's syndrome: a case report
- Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective
- Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta
- Morphology of gonads in pure XY gonadal dysgenesis
- Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients
- New aspects of diagnosing and treating pure gonadal dysgenesis 46XY and 46XX
- Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report
- Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review
- Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia
- Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal
- Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis
- Practical approach to steroid 5alpha-reductase type 2 deficiency
- Pregnancies following ovum donation in gonadal dysgenesis
- Pregnancy and delivery in a patient with pure 46,XY karyotype. Summary of actual knowledge about XY women
- Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis
- Preimplantation genetic testing is not a preferred recommendation for patients with X chromosome abnormalities
- Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation
- Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype
- Primary gonadal failure
- Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13
- Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment
- Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience
- Sex of rearing in 46,XY partial gonadal dysgenesis (case report)
- Sexually dimorphic expression of Usp9x is related to sex chromosome complement in adult mouse brain
- Small deletions of the short arm of the Y chromosome in 46,XY females
- SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
- Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation
- Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype
- Swyer syndrome: report of 5 cases
- Testicular juvenile granulosa cell tumor in an infant with X/XY mosaicism clinically diagnosed as true hermaphroditism
- The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature
- The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
- The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
- The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
- The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis
- Three patients with 46,X,inv(Y)(p11.2q11.2)pat/45,X and their pedigree analysis
- Transdermal estradiol substitution therapy for the induction of puberty in female hypogonadism
- Turner's syndrome--correlation between karyotype and phenotype
- Two novel mutations in SRY gene form Chinese sex reversal XY females
- Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
- WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report
- XY type gonadal dysgenesis, trisomy X and variants
- Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report
- Zfx mutation results in small animal size and reduced germ cell number in male and female mice