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Journal Abstract Search

235 related items for PubMed ID: 23513070

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  • 3. 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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  • 4. 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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  • 6. Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
    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.
    Am J Med Genet C Semin Med Genet; 2017 Jun 26; 175(2):260-267. PubMed ID: 28544750
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  • 13. 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 Jun 26; 2020():1789514. PubMed ID: 32596280
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  • 14. 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 26; 96(2):296-307. PubMed ID: 21147889
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  • 17. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V.
    J Pediatr Endocrinol Metab; 2017 Jan 01; 30(1):19-26. PubMed ID: 27849622
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  • 18. Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
    Chan AO, But BW, Lau GT, Lam AL, Ng KL, Lam YY, Lee CY, Shek CC.
    Hong Kong Med J; 2009 Apr 01; 15(2):130-5. PubMed ID: 19342739
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  • 19. 5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
    Avendaño A, González-Coira M, Paradisi I, Rojas A, Da Silva G, Gómez-Pérez R, Ceballos JO.
    Ann Hum Genet; 2020 Mar 01; 84(2):151-160. PubMed ID: 31613402
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  • 20. 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 30; 2012():. PubMed ID: 23112260
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