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Journal Abstract Search

287 related items for PubMed ID: 30269266

  • 1. 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
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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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  • 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 Oct; 2020():1789514. PubMed ID: 32596280
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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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  • 6. 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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  • 7. 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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  • 9. 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 Jun 27; 21(6):577-581. PubMed ID: 31031332
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  • 10. Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
    Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L.
    Hormones (Athens); 2011 Jun 27; 10(3):230-5. PubMed ID: 22001134
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  • 11. 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 27; 8(10):e1431. PubMed ID: 32713132
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  • 14. Late Diagnosis of 5-α-Reductase Type 2 Deficiency in an Adolescent Girl with Primary Amenorrhoea.
    Hummadi AA, Yahya AO, Al-Qahtani AM.
    Sultan Qaboos Univ Med J; 2017 May 27; 17(2):e218-e220. PubMed ID: 28690896
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  • 15. 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 27; 96(2):296-307. PubMed ID: 21147889
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  • 16. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
    Skordis N, Neocleous V, Kyriakou A, Efstathiou E, Sertedaki A, Philibert P, Phylactou LA, Lumbroso S, Sultan C.
    J Endocrinol Invest; 2010 Dec 27; 33(11):810-4. PubMed ID: 20511729
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  • 17. Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.
    Shabir I, Khurana ML, Joseph AA, Eunice M, Mehta M, Ammini AC.
    Andrology; 2015 Nov 27; 3(6):1132-9. PubMed ID: 26453174
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