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Journal Abstract Search

179 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
    [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. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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 28; 63(2):361-368. PubMed ID: 30269266
    [Abstract] [Full Text] [Related]

  • 6. 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 28; 81(5):711-20. PubMed ID: 24665940
    [Abstract] [Full Text] [Related]

  • 7. A Teenage Girl with Unexpected Pubertal Changes.
    Wijeratne N, McNeil AR, Doery JCG, McLeod E, Bergman PB, Montalto J.
    Clin Chem; 2018 Jun 28; 64(6):892-896. PubMed ID: 29844058
    [No Abstract] [Full Text] [Related]

  • 8. 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; 28(9):859-866. PubMed ID: 35700942
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 175(2):260-267. PubMed ID: 28544750
    [Abstract] [Full Text] [Related]

  • 11. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
    Batista RL, Mendonca BB.
    Sex Dev; 2022 Jun 28; 16(2-3):171-183. PubMed ID: 35793650
    [Abstract] [Full Text] [Related]

  • 12. Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.
    Guaragna-Filho G, Calixto AR, De Paula GB, De Oliveira LC, Morcillo AM, De Mello MP, Maciel-Guerra AT, Guerra-Junior G.
    J Pediatr Endocrinol Metab; 2018 Jan 26; 31(2):191-194. PubMed ID: 29306929
    [Abstract] [Full Text] [Related]

  • 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 26; 17(2):197-204. PubMed ID: 29858846
    [Abstract] [Full Text] [Related]

  • 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 26; 8(10):e1431. PubMed ID: 32713132
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [No Abstract] [Full Text] [Related]

  • 20. 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 26; 84(2):151-160. PubMed ID: 31613402
    [Abstract] [Full Text] [Related]

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