White PC - Search Results

1

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Geley S, Kapelari K, Jöhrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell WG, White PC, Kofler R. Geley S, et al. Among authors: white pc. J Clin Endocrinol Metab. 1996 Aug;81(8):2896-901. doi: 10.1210/jcem.81.8.8768848. J Clin Endocrinol Metab. 1996. PMID: 8768848

2

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.

Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC. Helmberg A, et al. Among authors: white pc. Mol Endocrinol. 1992 Aug;6(8):1318-22. doi: 10.1210/mend.6.8.1406709. Mol Endocrinol. 1992. PMID: 1406709

3

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC. Speiser PW, et al. Among authors: white pc. J Clin Invest. 1992 Aug;90(2):584-95. doi: 10.1172/JCI115897. J Clin Invest. 1992. PMID: 1644925 Free PMC article.

4

Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC, New MI. White PC, et al. J Clin Endocrinol Metab. 1992 Jan;74(1):6-11. doi: 10.1210/jcem.74.1.1727830. J Clin Endocrinol Metab. 1992. PMID: 1727830 Review. No abstract available.

5

First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).

Speiser PW, Laforgia N, Kato K, Pareira J, Khan R, Yang SY, Whorwood C, White PC, Elias S, Schriock E, et al. Speiser PW, et al. Among authors: white pc. J Clin Endocrinol Metab. 1990 Apr;70(4):838-48. doi: 10.1210/jcem-70-4-838. J Clin Endocrinol Metab. 1990. PMID: 1969421 Review.

6

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A. White PC, et al. J Clin Invest. 1991 May;87(5):1664-7. doi: 10.1172/JCI115182. J Clin Invest. 1991. PMID: 2022736 Free PMC article.

7

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.

Donohoue PA, van Dop C, McLean RH, White PC, Jospe N, Migeon CJ. Donohoue PA, et al. Among authors: white pc. J Clin Endocrinol Metab. 1986 May;62(5):995-1002. doi: 10.1210/jcem-62-5-995. J Clin Endocrinol Metab. 1986. PMID: 3007562

8

Molecular genetics of congenital adrenal hyperplasia.

White PC, New MI. White PC, et al. Baillieres Clin Endocrinol Metab. 1988 Nov;2(4):941-65. doi: 10.1016/s0950-351x(88)80025-9. Baillieres Clin Endocrinol Metab. 1988. PMID: 3077248 Review.

9

Steroid 11 beta-hydroxylase deficiency and related disorders.

White PC, Speiser PW. White PC, et al. Endocrinol Metab Clin North Am. 1994 Jun;23(2):325-39. Endocrinol Metab Clin North Am. 1994. PMID: 8070425 Review.

10

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L. Curnow KM, et al. Among authors: white pc. Proc Natl Acad Sci U S A. 1993 May 15;90(10):4552-6. doi: 10.1073/pnas.90.10.4552. Proc Natl Acad Sci U S A. 1993. PMID: 8506298 Free PMC article.

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