Results 111 to 120 of about 1,174,652 (161)

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese

Biology of Sex Differences
Purpose 46,XY disorders of sex development (46,XY DSD) are characterized by incomplete masculinization of genitalia with reduced androgenization. Accurate clinical management remains challenging, especially based solely on physical examination.
Hongyu Chen, Guangjie Chen, Fengxia Li, Yong Huang, Linfeng Zhu, Yijun Zhao, Ziyi Jiang, Xiang Yan, Lan Yu   +8 more
doaj   +1 more source

Correction to: One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria. [PDF]

Orphanet J Rare Dis, 2022
Hou L, Zhao M, Fan L, Cao B, Chen J, Cui Y, Polak M, Gong C.   +7 more
europepmc   +1 more source

Novel and Known <i>DHX37</i> Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum. [PDF]

Genes (Basel)
Xu X, Wu X, Chen S, Miao H, Fang K, Wu D, Zhang Y, Yang X.   +7 more
europepmc   +1 more source

[Erratum: clinical and molecular characteristics of patients with 46,xy dsd due to nr5a1 gene mutations (Probl Endokrinol (Mosk). 2020 Sep 16;66(3):62-69. Russian. doi: 10.14341/probl12445)]. [PDF]

Probl Endokrinol (Mosk), 2021
Kalinchenko NY, Kolodkina AA, Raygorodskaya NY, Tiulpakov AN.   +3 more
europepmc   +1 more source

Spectrum and genotype-phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis. [PDF]

Endocr Connect
Dallago RT, Batista RL, Domenice S, Nunes-Nogueira VDS, Mendonca BB.   +4 more
europepmc   +1 more source

Novel compound heterozygous <i>POR</i> variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review. [PDF]

Front Endocrinol (Lausanne)
Zhang W, Zeng J, Li Y, Xie C, Sun Z, Lyu G, Yan T, Huang X.   +7 more
europepmc   +1 more source

46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review. [PDF]

Int J Mol Sci
Correa Brito L, Suco S, Casali B, Villegas F, Scaglia P, Izquierdo A, Lopez Dacal J, Podestá M, Medin M, Grinspon RP, Ropelato MG, Rey RA.   +11 more
europepmc   +1 more source

An Infant With <i>DHX37</i> Variant: A Novel Etiology of 46,XY DSD and Literature Review. [PDF]

JCEM Case Rep
Turk Yilmaz RS, Hittelman AB, Vash-Margita A, Dinauer C, Weinzimer SA, Gujral J.   +5 more
europepmc   +1 more source

A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD. [PDF]

J Pediatr Genet
Wacharasindhu S, Ittiwut C, Ittiwut R, Aroonparkmongkol S, Suphapeetiporn K.   +4 more
europepmc   +1 more source

A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency. [PDF]

Genes Dis
Ramos L.
europepmc   +1 more source