Results 111 to 120 of about 2,312 (175)

Gene therapy for disorders of sex development: current applications and future challenges. [PDF]

Front Genet
Peng W, Zhao Q, Chen J, Peng H, Jiang H.
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

Two Cases of <i>MYRF</i>-Related Differences of Sex Development: A Wide Phenotypic Spectrum. [PDF]

JCEM Case Rep
Dayno A, Chatty P, Muneer S, Montano C, Kilberg M, Vogiatzi M.   +5 more
europepmc   +1 more source

Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants. [PDF]

Endocr Connect
Fouatih K, Roussel C, Cartigny M, Houang M, Duranteau L, Chakhtoura Z, Lambert AS, Trouvin MA, Girerd B, Belozertseva E, Borgel D, Franchi-Abella S, Bouligand J, Lopez M, Chappell K, Buffet P, Belguith I, Bouvattier C, Ait Tayeb AEK.   +18 more
europepmc   +1 more source

Swyer syndrome in a Syrian female: A rare case report. [PDF]

J Int Med Res
Alhallak S, Alabed A, Khabazeh A, Alwannous K.   +3 more
europepmc   +1 more source

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

J Clin Endocrinol Metab
Tadokoro-Cuccaro R, Hughes IA, Cools M, van de Vijver K, Bilharinho de Mendonça B, Domenice S, Loch Batista R, Thomazini Dallago R, Costa EF, Lisboa Gomes N, Maciel-Guerra AT, Guerra-Junior G, Gabriel Ribeiro de Andrade J, Lucas-Herald A, Bryce J, Hannema S, Juul A, Globa E, McElreavey K, Baronio F, Rey R, Lopez Dacal J, Darendeliler F, Poyrazoglu S, Kolesińska Z, Niedziela M, Claahsen-van der Grinten HL, van den Akker ELT, Herrmann G, Atapattu N, Jain V, Sharma R, Bettendorf M, Konrad D, Lenherr-Taube N, Holterhus PM, Fica S, Skae M, Russo G, Stancampiano MR, Gazdagh G, Davies JH, Mohamed Z, Seneviratne SN, Güran T, Güven A, Wasniewska M, Mladenov V, Verkauskas G, Markosyan R, Korbonits M, Hiort O, Frielitz-Wagner IV, Ahmed SF, Thankamony A.   +54 more
europepmc   +1 more source

Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development. [PDF]

Intractable Rare Dis Res
Wang Y, Zhao H, Yan H, Wang Y.
europepmc   +1 more source

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia. [PDF]

Reports (MDPI)
Krzyścin M, Brodowska A, Pietrzyk D, Zając K, Sowińska-Przepiera E.   +4 more
europepmc   +1 more source

Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center. [PDF]

Children (Basel)
Ventresca S, Chioma L, Ruta R, Mucciolo M, Parisi P, Suppiej A, Loche S, Cappa M, Bizzarri C.   +8 more
europepmc   +1 more source

Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome. [PDF]

Cureus
Katiyar R, Chaurasia DK, Kumar A, Mishra S, Sabberwal A.   +4 more
europepmc   +1 more source