Disease: XY Female
- A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination
- A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female
- A novel <em>SRY</em> pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293
- A novel SRY pathogenic variant from a 46,XY female harboring a nonsense point mutation (G to A) in position 293
- A Perplexing Case of a Germ Cell Tumor: A Case Report
- Application of fluorescence in situ hybridization combined with chromosomal karyotyping analysis in children with disorders of sex development due to sex chromosome abnormalities
- Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1
- Characterization of the male-specific region containing the candidate sex-determining gene in Amur catfish (Silurus asotus) using third-generation- and pool-sequencing data
- Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
- Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development
- Contrast-enhanced US to Improve Diagnostic Performance of O-RADS US Risk Stratification System for Malignancy
- Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing
- Expression and regulation of <em>42Sp50</em> in spotted scat (<em>Scatophagus argus</em>)
- Genetics, Gonadal Dysgenesis
- Genotype-Phenotype Correlation in <em>WT1</em> Exon 8 to 9 Missense Variants
- Hormone profiles of the African pygmy mouse Mus minutoides, a species with XY female sex reversal
- In vitro cellular reprogramming to model gonad development and its disorders
- Influence of weight-bearing on the 3D movement of lumbar facet joints in the sitting position
- Late presentation of Swyer syndrome: A case report
- Maternal preconception thyroid autoimmunity is associated with neonatal birth weight conceived by PCOS women undergoing their first in vitro fertilization/intracytoplasmic sperm injection
- Morphological Changes of the Intervertebral Disc During Growth
- New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment
- Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome
- Placebo response of sham acupuncture in patients with primary dysmenorrhea: A meta-analysis
- Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing
- Prevalence of Chromosomal Abnormalities in Iranian Patients with Infertility
- Prophylactic gonadectomy in 46 XY females; why, where and when?
- Retrieval of Trophoblast Cells from the Cervical Canal: A Promising Non-invasive Method for Prenatal Diagnosis
- Sex determination in papaya: Current status and perspectives
- Sex-specific actions of estradiol and testosterone on human fibroblast and endothelial cell proliferation, bioenergetics, and vasculogenesis
- Sexual development dysgenesis in interspecific hybrids of Medaka fish
- Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development
- Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland
- Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity
- The haplolethal gene wupA of Drosophila exhibits potential as a target for an X-poisoning gene drive
- The impact of chromosomal sex on cardiometabolic health and disease
- WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma
- 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