154 related articles for article (PubMed ID: 34839514)
1. [Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency].
Li M; Che F; Qiu S; Wang Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1233-1236. PubMed ID: 34839514
[TBL] [Abstract][Full Text] [Related]
2. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of
Gui B; Song Y; Su Z; Luo FH; Chen L; Wang X; Chen R; Yang Y; Wang J; Zhao X; Fan L; Liu X; Wang Y; Chen S; Gong C
J Med Genet; 2019 Oct; 56(10):685-692. PubMed ID: 31186340
[TBL] [Abstract][Full Text] [Related]
3. Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.
Liu Q; Yin X; Li P
Endocr Pract; 2022 Sep; 28(9):859-866. PubMed ID: 35700942
[TBL] [Abstract][Full Text] [Related]
4. Identification of three novel
Cheng T; Wang H; Han B; Zhu H; Yao HJ; Zhao SX; Zhu WJ; Zhai HL; Chen FG; Song HD; Cheng KX; Liu Y; Qiao J
Asian J Androl; 2019; 21(6):577-581. PubMed ID: 31031332
[TBL] [Abstract][Full Text] [Related]
5. [Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation].
Chu GM; Li PP; Chang WJ; He R; Zhao YY
Zhongguo Dang Dai Er Ke Za Zhi; 2020 Jul; 22(7):790-795. PubMed ID: 32669180
[TBL] [Abstract][Full Text] [Related]
6. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
Sasaki G; Ishii T; Hori N; Amano N; Homma K; Sato S; Hasegawa T
Endocr J; 2019 Sep; 66(9):837-842. PubMed ID: 31178538
[TBL] [Abstract][Full Text] [Related]
7. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL; Mendonca BB
Sex Dev; 2022; 16(2-3):171-183. PubMed ID: 35793650
[TBL] [Abstract][Full Text] [Related]
8. Mutations in
Akcan N; Uyguner O; Baş F; Altunoğlu U; Toksoy G; Karaman B; Avcı Ş; Yavaş Abalı Z; Poyrazoğlu Ş; Aghayev A; Karaman V; Bundak R; Başaran S; Darendeliler F
J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):153-171. PubMed ID: 35135181
[TBL] [Abstract][Full Text] [Related]
9. Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Fan L; Song Y; Polak M; Li L; Ren X; Zhang B; Wu D; Gong C
Mol Genet Genomic Med; 2020 Oct; 8(10):e1431. PubMed ID: 32713132
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H; Liu W; Han B; Fan M; Zhao S; Wang H; Lu Y; Pan C; Chen F; Chen M; Song H; Cheng K; Qiao J
Clin Endocrinol (Oxf); 2014 Nov; 81(5):711-20. PubMed ID: 24665940
[TBL] [Abstract][Full Text] [Related]
11. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
Berra M; Williams EL; Muroni B; Creighton SM; Honour JW; Rumsby G; Conway GS
Eur J Endocrinol; 2011 Jun; 164(6):1019-25. PubMed ID: 21402750
[TBL] [Abstract][Full Text] [Related]
12. [Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].
Yuan S; Zhong C; Li X; Du J; Li W; Lu G; Tan Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):159-163. PubMed ID: 28397209
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
Jia W; Zheng D; Zhang L; Li C; Zhang X; Wang F; Guan Q; Fang L; Zhao J; Xu C
Endocr J; 2018 Jun; 65(6):645-655. PubMed ID: 29643321
[TBL] [Abstract][Full Text] [Related]
14. Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from India.
Shabir I; Marumudi E; Khurana ML; Khadgawat R
BMJ Case Rep; 2012 Oct; 2012():. PubMed ID: 23112260
[TBL] [Abstract][Full Text] [Related]
15. Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children.
Tran TCM; Tran TNA; Le HBN; Nguyen VH; Tran MD; Vu CD; Greaves RF
Clin Chem Lab Med; 2022 Jul; 60(8):1225-1233. PubMed ID: 35607271
[TBL] [Abstract][Full Text] [Related]
16. Genetic Analysis of 25 Patients with 5
Han B; Cheng T; Zhu H; Yu J; Zhu WJ; Song HD; Yao H; Qiao J
Biomed Res Int; 2020; 2020():1789514. PubMed ID: 32596280
[TBL] [Abstract][Full Text] [Related]
17. The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.
Seo J; Shin S; Kim SW; Kim SJ; Lee M; Song K; Suh J; Lee ST; Lee YS; Chae HW; Kim HS; Choi JR; Han S; Kwon A
Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36834714
[TBL] [Abstract][Full Text] [Related]
18. Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
Nie M; Zhou Q; Mao J; Lu S; Wu X
Mol Hum Reprod; 2011 Jan; 17(1):57-62. PubMed ID: 20736251
[TBL] [Abstract][Full Text] [Related]
19. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
Alswailem MM; Alzahrani OS; Alghofaili L; Qasem E; Almohanaa M; Alsagheir A; Bin Abbas B; Attia NA; Al Shaikh A; Alzahrani AS
Endocrine; 2019 Feb; 63(2):361-368. PubMed ID: 30269266
[TBL] [Abstract][Full Text] [Related]
20. Male assignment in 5α-reductase type 2 deficiency with female external genitalia.
Konishi A; Ida S; Matsui F; Etani Y; Kawai M
Pediatr Int; 2021 May; 63(5):592-594. PubMed ID: 33764589
[No Abstract] [Full Text] [Related]
[Next] [New Search]