Results 121 to 130 of about 167,060,252 (161)

<i>NR5A1</i> gene variants: variable phenotypes, new variants, and genotype-phenotype correlations. [PDF]

Front Endocrinol (Lausanne)
Li L, Mao D, Li X, Song Y, Ren X, Gong C.   +5 more
europepmc   +1 more source

Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development. [PDF]

Mol Cytogenet
Wang H, Wang H, Xu Z, Chen P, Zheng X, Pan H, Zhang H, Zheng J.   +7 more
europepmc   +1 more source

Post-translational modification of proteins in the human testis development pathway. [PDF]

Hum Reprod Update
Idris FP, Ferreira LGA, Houston B, Humphrey SJ, Sinclair AH, Ayers KL.   +5 more
europepmc   +1 more source

Severe Hyperandrogenism Revealing a 46,XY Disorder of Sex Development Due to a Novel NR5A1 Mutation. [PDF]

Cureus
Yakine F, Bouarab I, Alaoui-Inboui FZ, Idrissifawzi F, Slaoui B.   +4 more
europepmc   +1 more source

GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia. [PDF]

Clin Genet
Koga N, Katoh-Fukui Y, Fukui S, Kashimada K, Fukami M.   +4 more
europepmc   +1 more source

Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study. [PDF]

Front Pediatr
Abasi R, Zhilang L, Mengjie J, Longshan L, Xiaoyun J, Yuxin P.   +5 more
europepmc   +1 more source

Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report. [PDF]

Front Endocrinol (Lausanne)
Luo J, Huang F, Li J, Mo E, Wang H, Zhang J, Pang C, Lei D, Chen J.   +8 more
europepmc   +1 more source

Impact of the Empower-DSD training program on the health-related quality of life in children, adolescents and young adults with differences of sex development and their parents. [PDF]

Front Pediatr
Neumann U, Schilling R, Wiegmann S, Ernst M, Winter M, Wechsung K, Marshall L, Döhnert U, Hiort O, Rohayem J, Liesenkötter KP, Richter-Unruh A, Janssen-Schmidchen G, Herrmann G, Wabitsch M, Roll S, Keil T, Stöckigt B.   +17 more
europepmc   +1 more source

The Role of WWOX Gene Variant in Hypospadias and 46,XY Disorders of Sexual Development. [PDF]

Reprod Sci
Denkboy Ongen Y, Tezcan-Unlu H, Unal U, Efendi-Erdem E, Cecener G, Eren E.   +5 more
europepmc   +1 more source