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Journal Abstract Search

330 related items for PubMed ID: 31178538

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  • 3. 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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  • 5. Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
    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
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  • 7. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty.
    Ariyasu D, Nagamatsu F, Aso K, Akiba K, Hasegawa Y.
    Endocr J; 2023 Jan 30; 70(1):59-67. PubMed ID: 36216557
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  • 8. 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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  • 9. 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 07; 63(2):361-368. PubMed ID: 30269266
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  • 10. 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 07; 56(10):685-692. PubMed ID: 31186340
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  • 13. 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 07; 175(2):260-267. PubMed ID: 28544750
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  • 14. A Teenage Girl with Unexpected Pubertal Changes.
    Wijeratne N, McNeil AR, Doery JCG, McLeod E, Bergman PB, Montalto J.
    Clin Chem; 2018 Jun 07; 64(6):892-896. PubMed ID: 29844058
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  • 15. [Association between karyotype 47XYY and 5-alpha reductase deficiency revealed by micropenis: about a case and literature review].
    Mbamognoua NGA, Aziouaz F, Matali S, Ouahabi HE, Ajdi F.
    Pan Afr Med J; 2020 Jun 07; 36():48. PubMed ID: 32774624
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  • 16. 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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  • 19. 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 30; 164(6):1019-25. PubMed ID: 21402750
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  • 20. Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
    Chan AO, But BW, Lee CY, Lam YY, Ng KL, Tung JY, Kwan EY, Chan YK, Tsui TK, Lam AL, Tse WY, Cheung PT, Shek CC.
    Clin Chem; 2013 May 30; 59(5):798-806. PubMed ID: 23513070
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