Winter JS - Search Results

1

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M. Yanase T, et al. Among authors: winter js. Biochim Biophys Acta. 1992 Aug 25;1139(4):275-9. doi: 10.1016/0925-4439(92)90100-2. Biochim Biophys Acta. 1992. PMID: 1515452

2

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR. Ahlgren R, et al. Among authors: winter js. J Clin Endocrinol Metab. 1992 Mar;74(3):667-72. doi: 10.1210/jcem.74.3.1740503. J Clin Endocrinol Metab. 1992. PMID: 1740503

3

Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.

Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS. Kagimoto K, et al. Among authors: winter js. Hum Genet. 1989 Jun;82(3):285-6. doi: 10.1007/BF00291172. Hum Genet. 1989. PMID: 2786493

4

Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.

Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. Kagimoto M, et al. Among authors: winter js. Mol Endocrinol. 1988 Jun;2(6):564-70. doi: 10.1210/mend-2-6-564. Mol Endocrinol. 1988. PMID: 2843762

5

Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding.

Fan YS, Sasi R, Lee C, Winter JS, Waterman MR, Lin CC. Fan YS, et al. Among authors: winter js. Genomics. 1992 Dec;14(4):1110-1. doi: 10.1016/s0888-7543(05)80140-5. Genomics. 1992. PMID: 1478654

6

Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.

Winter JS, Couch RM, Muller J, Perry YS, Ferreira P, Baydala L, Shackleton CH. Winter JS, et al. J Clin Endocrinol Metab. 1989 Feb;68(2):309-16. doi: 10.1210/jcem-68-2-309. J Clin Endocrinol Metab. 1989. PMID: 2493025

7

Diagnosis and natural history of 17-hydroxylase deficiency in a newborn male.

Dean HJ, Shackleton CH, Winter JS. Dean HJ, et al. Among authors: winter js. J Clin Endocrinol Metab. 1984 Sep;59(3):513-20. doi: 10.1210/jcem-59-3-513. J Clin Endocrinol Metab. 1984. PMID: 6086702

8

Adult-onset familial adrenal 21-hydroxylase deficiency.

Blankstein J, Faiman C, Reyes FI, Schroeder ML, Winter JS. Blankstein J, et al. Among authors: winter js. Am J Med. 1980 Mar;68(3):441-8. doi: 10.1016/0002-9343(80)90117-5. Am J Med. 1980. PMID: 6965821

9

Regulation of the activities of 17-hydroxylase and 17,20-desmolase in the human adrenal cortex: kinetic analysis and inhibition by endogenous steroids.

Couch RM, Muller J, Winter JS. Couch RM, et al. Among authors: winter js. J Clin Endocrinol Metab. 1986 Sep;63(3):613-8. doi: 10.1210/jcem-63-3-613. J Clin Endocrinol Metab. 1986. PMID: 3488326

10

Kinetic analysis of inhibition of human adrenal steroidogenesis by ketoconazole.

Couch RM, Muller J, Perry YS, Winter JS. Couch RM, et al. Among authors: winter js. J Clin Endocrinol Metab. 1987 Sep;65(3):551-4. doi: 10.1210/jcem-65-3-551. J Clin Endocrinol Metab. 1987. PMID: 3497939

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