Results 131 to 140 of about 1,116,925 (160)

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development. [PDF]

Asian J Androl
Mao Y, Huang JM, Chen-Zhang YW, Lin H, Zhang YH, Jiang JY, Wu XM, Liao L, Tang YM, Yang JY.   +9 more
europepmc   +1 more source

Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features. [PDF]

Curr Issues Mol Biol
Luppino G, Wasniewska M, Coco R, Pepe G, Morabito LA, Li Pomi A, Corica D, Aversa T.   +7 more
europepmc   +1 more source

46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review. [PDF]

Transl Pediatr
Zheng XQ, Zhou QL, Gu W.
europepmc   +1 more source

Clinicoepidemiological Profile of Disorders of Sex Development Presenting to a Tertiary Care Center: A Descriptive Observational Study.

J Indian Assoc Pediatr Surg
Pandre SK, Sharma PK, Chanchlani R, Maheshwari M, Thanneeru SK, Ahmad R.   +5 more
europepmc   +1 more source

Presentation of Sex Chromosomal Disorders of Sex Development With Genital Ambiguity: A Case Report on a Rare Medical Condition. [PDF]

Cureus
Garlapati S, Mane SV, Gupte S, Mehta S, Gupta A, Avuthu OPR.   +5 more
europepmc   +1 more source

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development. [PDF]

Biol Res
Wang C, Chen H, Chen Q, Qu Y, Yuan K, Liang L, Yan Q.   +6 more
europepmc   +1 more source

Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing. [PDF]

Clin Pediatr Endocrinol
Uehara E, Akiba K, Matsubara K, Fukami M, Tanase-Nakao K.   +4 more
europepmc   +1 more source

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

Biol Sex Differ
Chen H, Chen G, Li F, Huang Y, Zhu L, Zhao Y, Jiang Z, Yan X, Yu L.   +8 more
europepmc   +1 more source

The Approach to Patients with Disorders of Sex Development (DSD) in the Era of Precision Medicine: The Careful Use of Terminology. [PDF]

touchREV Endocrinol
Rey RA.
europepmc   +1 more source

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development. [PDF]

Mol Genet Genomic Med
Jiang W, Yu J, Mao Y, Tang Y, Cao L, Du Q, Li J, Yang J.   +7 more
europepmc   +1 more source