Results 131 to 140 of about 3,198 (197)

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

Clinical characteristics of 46,XY disorder of sex development(46,XY DSD) caused by NR5A1 gene mutation [PDF]

Journal of Pediatric Urology, 2020
openaire   +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

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

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

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. [PDF]

J Endocr Soc, 2019
Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC.   +11 more
europepmc   +1 more source

Correction to: "An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review". [PDF]

JCEM Case Rep
europepmc   +1 more source

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. [PDF]

Am J Med Genet C Semin Med Genet, 2017
Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE.   +12 more
europepmc   +1 more source