Results 101 to 110 of about 2,351 (123)

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +1 more source

Clinical Spectrum, Surgical Management, and Outcomes of <i>NR5A1</i>-Related 46,XY Differences of Sex Development: A Narrative Review. [PDF]

Medicina (Kaunas)
Vicario S, Escolino M, Esposito G, Porcaro M, Di Mase R, Azizoglu M, Esposito C.   +6 more
europepmc   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation. [PDF]

Clin Case Rep
Francesca AM, Serena S, Chiara DB, Angela RM, Basilia P, Marco C, Mattia G, Maddalena RR, Emanuela E, Silvana B, Salvatore C.   +10 more
europepmc   +1 more source

Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives. [PDF]

Prenat Diagn
Dingle M, Aufox S, Johnson EK, Dungan JS, Clark A, Abihider K, Weisman AG.   +6 more
europepmc   +1 more source

Gene-Dosage Effect of V89L Variants in Steroid 5α-Reductase Type 2 and Increased Risk of 46, XY Disorders of Sex Development: A Systematic Review and Meta-Analysis.

J Indian Assoc Pediatr Surg
Deeba F, Choudhury P, Sharma J, Jain V, Dhua AK, Yadav DK, Singh H, Afroz M, Dhikav V, Kumar N, Pandey H, Lal D, Goel P.   +12 more
europepmc   +1 more source

Sexual functioning, mental health and quality of life in 46,XX male: a case report. [PDF]

J Med Case Rep
Salama N, Hassan OS, Lado DK.
europepmc   +1 more source

Functional Validation of a Novel <italic>PBX1</italic> Missense Variant in a 46,XY Girl.

Sex Dev
Tsai MC, Weng YH, Wang YC, Chou YY, Chang KC, Chen PC.   +5 more
europepmc   +1 more source

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Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)

Journal of Pediatric Urology, 2021
Justine Schöber, Susanne Krege, Robert Roehle   +2 more
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