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Journal Abstract Search

144 related items for PubMed ID: 35607271

  • 21. [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]

  • 22. The diagnosis of 5 alpha-reductase deficiency in infancy.
    Imperato-McGinley J, Gautier T, Pichardo M, Shackleton C.
    J Clin Endocrinol Metab; 1986 Dec 10; 63(6):1313-8. PubMed ID: 3782419
    [Abstract] [Full Text] [Related]

  • 23. Practical approach to steroid 5alpha-reductase type 2 deficiency.
    Cheon CK.
    Eur J Pediatr; 2011 Jan 10; 170(1):1-8. PubMed ID: 20349245
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.
    Akiba K, Aso K, Hasegawa Y, Fukami M.
    J Pediatr Endocrinol Metab; 2021 Sep 27; 34(9):1191-1195. PubMed ID: 34162032
    [Abstract] [Full Text] [Related]

  • 26. Altered cortisol metabolism in polycystic ovary syndrome: insulin enhances 5alpha-reduction but not the elevated adrenal steroid production rates.
    Tsilchorozidou T, Honour JW, Conway GS.
    J Clin Endocrinol Metab; 2003 Dec 27; 88(12):5907-13. PubMed ID: 14671189
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. 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 Feb 27; 25(11-12):1077-82. PubMed ID: 23329752
    [Abstract] [Full Text] [Related]

  • 29. 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 Feb 27; 73(1):41-8. PubMed ID: 20190539
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. Differences of adrenal-derived androgens in 5α-reductase deficiency versus androgen insensitivity syndrome.
    Han B, Zhu H, Yao H, Ren J, O'Day P, Wang H, Zhu W, Cheng T, Auchus RJ, Qiao J.
    Clin Transl Sci; 2022 Mar 27; 15(3):658-666. PubMed ID: 34755921
    [Abstract] [Full Text] [Related]

  • 32. Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
    Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.
    Int J Mol Sci; 2011 Mar 27; 12(12):9471-80. PubMed ID: 22272144
    [Abstract] [Full Text] [Related]

  • 33. 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
    [Abstract] [Full Text] [Related]

  • 34. 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 27; 175(2):260-267. PubMed ID: 28544750
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
    Chan AO, But WM, Lee CY, Lam YY, Ng KL, Loung PY, Lam A, Cheng CW, Shek CC, Wong WS, Wong KF, Wong MY, Tse WY.
    Hong Kong Med J; 2015 Dec 27; 21(6):499-510. PubMed ID: 26492835
    [Abstract] [Full Text] [Related]

  • 37. 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
    [Abstract] [Full Text] [Related]

  • 38. Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.
    Marzuki NS, Idris FP, Kartapradja HD, Harahap AR, Batubara JRL.
    Int J Endocrinol; 2019 Oct 30; 2019():7676341. PubMed ID: 31885560
    [Abstract] [Full Text] [Related]

  • 39. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C, Pratuangdejkul J, Supornsilchai V, Muensri S, Hiranras Y, Sahakitrungruang T, Watcharasindhu S, Suphapeetiporn K, Shotelersuk V.
    J Pediatr Endocrinol Metab; 2017 Jan 01; 30(1):19-26. PubMed ID: 27849622
    [Abstract] [Full Text] [Related]

  • 40. 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 01; 28(4):231-5. PubMed ID: 22453073
    [Abstract] [Full Text] [Related]

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