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Journal Abstract Search

197 related items for PubMed ID: 32596280

  • 1. Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
    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
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  • 2. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
    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
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  • 4. 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 28; 66(9):837-842. PubMed ID: 31178538
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  • 9. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
    Cheng J, Lin R, Zhang W, Liu G, Sheng H, Li X, Zhou Z, Mao X, Liu L.
    Clin Endocrinol (Oxf); 2015 Oct 28; 83(4):518-26. PubMed ID: 25899528
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  • 11. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
    Batista RL, Mendonca BB.
    Sex Dev; 2022 Oct 28; 16(2-3):171-183. PubMed ID: 35793650
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  • 13. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
    Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M.
    Hormones (Athens); 2018 Jun 28; 17(2):197-204. PubMed ID: 29858846
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  • 14. 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 28; 8(10):e1431. PubMed ID: 32713132
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  • 15. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
    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 07; 14(2):153-171. PubMed ID: 35135181
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  • 16. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
    Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C.
    J Clin Endocrinol Metab; 2011 Feb 07; 96(2):296-307. PubMed ID: 21147889
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  • 17. 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 27; 65(6):645-655. PubMed ID: 29643321
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  • 18. 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 26; 60(8):1225-1233. PubMed ID: 35607271
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  • 19. 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 26; 63(5):592-594. PubMed ID: 33764589
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