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152 related items for PubMed ID: 35700942

  • 1. 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
    [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 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 Oct; 21(6):577-581. PubMed ID: 31031332
    [Abstract] [Full Text] [Related]

  • 5. 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; 83(4):518-26. PubMed ID: 25899528
    [Abstract] [Full Text] [Related]

  • 6. [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 10; 38(12):1233-1236. PubMed ID: 34839514
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 81(5):711-20. PubMed ID: 24665940
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 07; 24(4):. PubMed ID: 36834714
    [Abstract] [Full Text] [Related]

  • 12. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
    Batista RL, Mendonca BB.
    Sex Dev; 2022 Feb 07; 16(2-3):171-183. PubMed ID: 35793650
    [Abstract] [Full Text] [Related]

  • 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 Feb 07; 2020():1789514. PubMed ID: 32596280
    [Abstract] [Full Text] [Related]

  • 14. In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
    Zhang W, Yu B, Luo W, Sun B, Zhang X, Wang X, Mao J, Nie M, Wu X.
    J Steroid Biochem Mol Biol; 2023 Dec 07; 235():106421. PubMed ID: 37918676
    [Abstract] [Full Text] [Related]

  • 15. 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 07; 63(5):592-594. PubMed ID: 33764589
    [No Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. [Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency].
    Song YN, Fan LJ, Zhao X, Gong CX.
    Zhonghua Er Ke Za Zhi; 2019 Feb 02; 57(2):131-135. PubMed ID: 30695888
    [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 02; 17(1):57-62. PubMed ID: 20736251
    [Abstract] [Full Text] [Related]

  • 19. 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 02; 96(2):296-307. PubMed ID: 21147889
    [Abstract] [Full Text] [Related]

  • 20. A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
    Tsai MC, Chou YY, Lin SJ, Tsai LP.
    Kaohsiung J Med Sci; 2012 Apr 02; 28(4):231-5. PubMed ID: 22453073
    [Abstract] [Full Text] [Related]

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