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Journal Abstract Search

173 related items for PubMed ID: 24665940

  • 1. 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; 81(5):711-20. PubMed ID: 24665940
    [Abstract] [Full Text] [Related]

  • 2. 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; 17(1):57-62. PubMed ID: 20736251
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
    Yang Y, Wang BA, Guo QH, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM.
    J Pediatr Endocrinol Metab; 2012 Oct; 25(11-12):1077-82. PubMed ID: 23329752
    [Abstract] [Full Text] [Related]

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  • 6. A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.
    Zhang M, Yang J, Zhang H, Ning G, Li X, Sun S.
    Horm Res Paediatr; 2011 Oct; 76(1):44-9. PubMed ID: 21540559
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  • 8. 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]

  • 9. Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.
    Ko JM, Cheon CK, Kim GH, Kim SH, Kim KS, Yoo HW.
    Horm Res Paediatr; 2010 Jun 27; 73(1):41-8. PubMed ID: 20190539
    [Abstract] [Full Text] [Related]

  • 10. 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 27; 63(2):361-368. PubMed ID: 30269266
    [Abstract] [Full Text] [Related]

  • 11. 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 27; 2020():1789514. PubMed ID: 32596280
    [Abstract] [Full Text] [Related]

  • 12. 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 Feb 27; 10(3):230-5. PubMed ID: 22001134
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  • 14. [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]

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

  • 16. 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 02; 83(4):518-26. PubMed ID: 25899528
    [Abstract] [Full Text] [Related]

  • 17. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
    Vilchis F, Ramos L, Méndez JP, Benavides S, Canto P, Chávez B.
    J Androl; 2010 Oct 02; 31(4):358-64. PubMed ID: 20019388
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 33(11):810-4. PubMed ID: 20511729
    [Abstract] [Full Text] [Related]

  • 19. 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
    Skordis N, Patsalis PC, Bacopoulou I, Sismani C, Sultan C, Lumbroso S.
    J Pediatr Endocrinol Metab; 2005 Mar 02; 18(3):241-6. PubMed ID: 15813602
    [Abstract] [Full Text] [Related]

  • 20. Practical approach to steroid 5alpha-reductase type 2 deficiency.
    Cheon CK.
    Eur J Pediatr; 2011 Jan 02; 170(1):1-8. PubMed ID: 20349245
    [Abstract] [Full Text] [Related]

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