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222 related items for PubMed ID: 16822828

  • 21. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.
    Zhang M, Sun S, Liu Y, Zhang H, Jiao Y, Wang W, Li X.
    J Steroid Biochem Mol Biol; 2015 Jun; 150():11-6. PubMed ID: 25697092
    [Abstract] [Full Text] [Related]

  • 22. [Clinical and molecular genetic features of 17alpha-hydroxylase deficiency: study of a case].
    Yang MH, Wu XB, Li T, Wang MY.
    Zhonghua Yi Xue Za Zhi; 2006 Nov 07; 86(41):2900-4. PubMed ID: 17288786
    [Abstract] [Full Text] [Related]

  • 23. Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
    Ergun-Longmire B, Auchus R, Papari-Zareei M, Tansil S, Wilson RC, New MI.
    J Clin Endocrinol Metab; 2006 Oct 07; 91(10):4179-82. PubMed ID: 16849412
    [Abstract] [Full Text] [Related]

  • 24. Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
    Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR.
    Mol Endocrinol; 1991 Dec 07; 5(12):2037-45. PubMed ID: 1665206
    [Abstract] [Full Text] [Related]

  • 25. A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP.
    J Clin Endocrinol Metab; 2006 Jun 07; 91(6):2428-31. PubMed ID: 16569739
    [Abstract] [Full Text] [Related]

  • 26. 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 Jun 07; 55(3):141-6. PubMed ID: 11549876
    [Abstract] [Full Text] [Related]

  • 27. Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency.
    Katsumata N, Ogawa E, Fujiwara I, Fujikura K.
    Metabolism; 2010 Feb 07; 59(2):275-8. PubMed ID: 19793597
    [Abstract] [Full Text] [Related]

  • 28. A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency.
    Lee ES, Kim M, Moon S, Jekarl DW, Lee S, Kim Y, Choi GY.
    Gynecol Endocrinol; 2013 Jul 07; 29(7):720-3. PubMed ID: 23772786
    [Abstract] [Full Text] [Related]

  • 29. Rare hypertension as a result of 17alpha-hydroxylase deficiency.
    Wang W, Fu JF, Gong FQ, Zhu WH, Shen Z.
    J Pediatr Endocrinol Metab; 2011 Jul 07; 24(5-6):333-7. PubMed ID: 21823532
    [Abstract] [Full Text] [Related]

  • 30. A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
    Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S.
    J Clin Endocrinol Metab; 1997 Jun 07; 82(6):1934-8. PubMed ID: 9177409
    [Abstract] [Full Text] [Related]

  • 31. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
    Turkkahraman D, Guran T, Ivison H, Griffin A, Vijzelaar R, Krone N.
    Sex Dev; 2015 Jun 07; 9(2):91-7. PubMed ID: 25765894
    [Abstract] [Full Text] [Related]

  • 32. Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.
    Lee MH, Won Park S, Yoon TK, Shim SH.
    Gynecol Endocrinol; 2012 Jul 07; 28(7):573-6. PubMed ID: 22452398
    [Abstract] [Full Text] [Related]

  • 33. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
    Guenego A, Morel Y, Ionesco O, Mallet D, Priou-Guesdon M.
    Ann Endocrinol (Paris); 2015 Feb 07; 76(1):71-4. PubMed ID: 25613935
    [Abstract] [Full Text] [Related]

  • 34. Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
    Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z, Wudy SA.
    Eur J Endocrinol; 2008 Mar 07; 158(3):385-92. PubMed ID: 18299473
    [Abstract] [Full Text] [Related]

  • 35. Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
    Yanase T, Imai T, Simpson ER, Waterman MR.
    J Steroid Biochem Mol Biol; 1992 Dec 07; 43(8):973-9. PubMed ID: 22217842
    [Abstract] [Full Text] [Related]

  • 36. A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.
    Qiao J, Hu RM, Peng YD, Song HD, Peng YW, Gao GF, Hao JH, Hu NY, Xu MY, Chen JL.
    Mol Cell Endocrinol; 2003 Mar 28; 201(1-2):189-95. PubMed ID: 12706306
    [Abstract] [Full Text] [Related]

  • 37. Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency.
    Wang YP, Li J, Li JX, Zhao YJ, Zhang DY.
    Metabolism; 2011 Oct 28; 60(10):1386-91. PubMed ID: 21550081
    [Abstract] [Full Text] [Related]

  • 38. New compound heterozygous mutations of p. Thr101Ilefs 2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency.
    Xiao H, Zhang H, Li T, Wu D, Qin LT, Wang T, Zhang B, Liao SX.
    Genet Mol Res; 2015 Aug 10; 14(3):9318-24. PubMed ID: 26345865
    [Abstract] [Full Text] [Related]

  • 39. The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
    Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T'Sjoen G, Denvir L, Shenoy S, Fulton P, Cheetham TD, Gleeson H, Rahman M, Krone NP, Taylor NF, Shackleton CHL, Arlt W, Idkowiak J.
    Eur J Endocrinol; 2021 Oct 11; 185(5):729-741. PubMed ID: 34524979
    [Abstract] [Full Text] [Related]

  • 40. 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 11; 89(1):49-60. PubMed ID: 14715827
    [Abstract] [Full Text] [Related]

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