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Journal Abstract Search

217 related items for PubMed ID: 14715827

  • 1. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
    Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group.
    J Clin Endocrinol Metab; 2004 Jan; 89(1):49-60. PubMed ID: 14715827
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  • 2. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
    Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB.
    J Clin Endocrinol Metab; 2003 Dec; 88(12):5739-46. PubMed ID: 14671162
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  • 3. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    Patocs A, Liko I, Varga I, Gergics P, Boros A, Futo L, Kun I, Bertalan R, Toth S, Pazmany T, Toth M, Szücs N, Horanyi J, Glaz E, Racz K.
    J Steroid Biochem Mol Biol; 2005 Nov; 97(3):257-65. PubMed ID: 16176874
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  • 5. P450c17 deficiency: clinical and molecular characterization of six patients.
    Rosa S, Duff C, Meyer M, Lang-Muritano M, Balercia G, Boscaro M, Topaloglu AK, Mioni R, Fallo F, Zuliani L, Mantero F, Schoenle EJ, Biason-Lauber A.
    J Clin Endocrinol Metab; 2007 Mar; 92(3):1000-7. PubMed ID: 17192295
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  • 6. Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
    Yang J, Cui B, Sun S, Shi T, Zheng S, Bi Y, Liu J, Zhao Y, Chen J, Ning G, Li X.
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3619-25. PubMed ID: 16772352
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  • 7. Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
    Wei JQ, Wei JL, Li WC, Bi YS, Wei FC.
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3647-53. PubMed ID: 16822828
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  • 8. Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.
    Costenaro F, Rodrigues TC, Kater CE, Auchus RJ, Papari-Zareei M, Czepielewski MA.
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):744-8. PubMed ID: 21340163
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  • 10. A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.
    Won GS, Chiu CY, Tso YC, Jenq SF, Cheng PS, Jap TS.
    Metabolism; 2007 Apr; 56(4):504-7. PubMed ID: 17379008
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  • 11. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.
    Takeda Y, Yoneda T, Demura M, Furukawa K, Koshida H, Miyamori I, Mabuchi H.
    Clin Endocrinol (Oxf); 2001 Jun; 54(6):751-8. PubMed ID: 11422109
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  • 12. Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.
    Belgini DR, Mello MP, Baptista MT, Oliveira DM, Denardi FC, Garmes HM, Grassiotto Oda R, Benetti Pinto CL, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Júnior G.
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):711-6. PubMed ID: 21340157
    [Abstract] [Full Text] [Related]

  • 13. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T.
    Horm Res; 2001 Nov; 55(3):141-6. PubMed ID: 11549876
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  • 16. Seventeen alpha-hydroxylase deficiency.
    Wong SL, Shu SG, Tsai CR.
    J Formos Med Assoc; 2006 Feb; 105(2):177-81. PubMed ID: 16477341
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  • 17. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
    Alos N, Moisan AM, Ward L, Desrochers M, Legault L, Leboeuf G, Van Vliet G, Simard J.
    J Clin Endocrinol Metab; 2000 May; 85(5):1968-74. PubMed ID: 10843183
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  • 18. Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
    Coeli-Lacchini FB, Mermejo LM, Bodoni AF, Elias LLK, Silva WA, Antonini SR, Moreira AC, de Castro M.
    Horm Metab Res; 2020 Mar; 52(3):186-193. PubMed ID: 32215889
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  • 19. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec; 43(8):973-9. PubMed ID: 22217842
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  • 20. A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
    Unal E, Yıldırım R, Taş FF, Tekin S, Ceylaner S, Haspolat YK.
    Gynecol Endocrinol; 2020 Aug; 36(8):739-742. PubMed ID: 31885295
    [Abstract] [Full Text] [Related]

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