Simpson ER - 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: simpson er. 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

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.

Yanase T, Simpson ER, Waterman MR. Yanase T, et al. Among authors: simpson er. Endocr Rev. 1991 Feb;12(1):91-108. doi: 10.1210/edrv-12-1-91. Endocr Rev. 1991. PMID: 2026124 Review. No abstract available.

3

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.

Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR. Yanase T, et al. Among authors: simpson er. J Clin Endocrinol Metab. 1990 May;70(5):1325-9. doi: 10.1210/jcem-70-5-1325. J Clin Endocrinol Metab. 1990. PMID: 2335573

4

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: simpson er. Hum Genet. 1989 Jun;82(3):285-6. doi: 10.1007/BF00291172. Hum Genet. 1989. PMID: 2786493

5

Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR. Yanase T, et al. Among authors: simpson er. J Biol Chem. 1989 Oct 25;264(30):18076-82. J Biol Chem. 1989. PMID: 2808364 Free article.

6

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: simpson er. Mol Endocrinol. 1988 Jun;2(6):564-70. doi: 10.1210/mend-2-6-564. Mol Endocrinol. 1988. PMID: 2843762

7

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.

Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR. Yanase T, et al. Among authors: simpson er. Mol Cell Endocrinol. 1988 Oct;59(3):249-53. doi: 10.1016/0303-7207(88)90110-4. Mol Cell Endocrinol. 1988. PMID: 3263289

8

Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency.

Bradshaw KD, Waterman MR, Couch RT, Simpson ER, Zuber MX. Bradshaw KD, et al. Among authors: simpson er. Mol Endocrinol. 1987 May;1(5):348-54. doi: 10.1210/mend-1-5-348. Mol Endocrinol. 1987. PMID: 3274893

9

Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.

Imai T, Yanase T, Waterman MR, Simpson ER, Pratt JJ. Imai T, et al. Among authors: simpson er. Hum Genet. 1992 Apr;89(1):95-6. doi: 10.1007/BF00207050. Hum Genet. 1992. PMID: 1577471

10

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. Biason A, et al. Among authors: simpson er. Mol Endocrinol. 1991 Dec;5(12):2037-45. doi: 10.1210/mend-5-12-2037. Mol Endocrinol. 1991. PMID: 1665206

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