Results 141 to 150 of about 50,074,769 (205)

Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants. [PDF]

Biol Sex Differ
Liu Q, Zang S, Li Y, Yin X, Li P.
europepmc   +1 more source

MRI analysis of androgen insensitivity syndrome. [PDF]

BMC Med Imaging
Xiang Y, Wen P, Hu R, Yang G.
europepmc   +1 more source

STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis. [PDF]

Int J Mol Sci
Sirokha D, Rayevsky A, Kalynovskyi V, Khalangot M, Samson O, Gorodna O, Kwiatkowska K, Mayere C, Lemanska Z, Kunik A, Nef S, Kusz-Zamelczyk K, Livshits L.   +12 more
europepmc   +1 more source

Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis. [PDF]

Sci Rep
Fabbri-Scallet H, Calonga-Solís V, Guerra-Júnior G, de Mello MP, Maciel-Guerra AT, Miranda ML, Antolini-Tavares A, Busch H, Künstner A, Werner R, Hiort O.   +10 more
europepmc   +1 more source

Clinical Presentation and Management of Swyer Syndrome: A Case Report. [PDF]

Cureus
Errahali Y, Malad M, Lakssir I, Issouani J, Guerboub AA.   +4 more
europepmc   +1 more source

<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

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. [PDF]

Orphanet J Rare Dis
Błaszczyk E, Więcek M, Jazela-Stanek A, Kudela G, Koszutski T, Kowalczyk K, Sikora J, Wiernik A, Żarczyńska M, Kempińska W, Bielska-Brodziak A, Gawlik-Starzyk A.   +11 more
europepmc   +1 more source

Clinical Characteristics of End-Organ Failure as a Cause of Primary Amenorrhea: Multicenter Study in Korean Population. [PDF]

J Korean Med Sci
Chung YS, Yun BH, Kim HJ, Lee MH, Kim H, Lee DY, Lee SR, Kim M, Cho HH, Kang BM.   +9 more
europepmc   +1 more source