Disease: Gonadal dysgenesis XY type associated anomalies
- <em>MAP3K1</em> Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development
- 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 mouse Fgfr2 mutant, hobbyhorse (hob), exhibits complete XY gonadal sex reversal
- Chromosomal aberrations in women with primary and secondary amenorrhea: A cross-sectional study
- Classical interstitial pneumonitis and mixed cryoglobulinemia in a male with Turner phenotype. Report of a case and review of the literature
- Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
- Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development
- Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life
- Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development
- Gonadoblastoma. Review of the literature. Apropos of a case
- Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues
- Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa)
- MAP3K1 Variant Causes Hyperactivation of Wnt4/beta-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development
- Mesomelic dwarfism Langer type associated to mixed gonadal dysgenesis, whit cariotipe 46,XY/45 X (author's transl)
- Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients
- Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience
- WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report