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Prenatal treatment of congenital adrenal hyperplasia-not standard of care.
Witchel SF, Miller WL. Witchel SF, et al. J Genet Couns. 2012 Oct;21(5):615-24. doi: 10.1007/s10897-012-9508-8. Epub 2012 May 26. J Genet Couns. 2012. PMID: 22639328 Review.
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB. Witchel SF, et al. J Clin Endocrinol Metab. 1996 Nov;81(11):4081-8. doi: 10.1210/jcem.81.11.8923864. J Clin Endocrinol Metab. 1996. PMID: 8923864
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Witchel SF, Lee PA, Suda-Hartman M, Trucco M, Hoffman EP. Witchel SF, et al. J Clin Endocrinol Metab. 1997 Jul;82(7):2097-101. doi: 10.1210/jcem.82.7.4086. J Clin Endocrinol Metab. 1997. PMID: 9215278
Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis.
Witchel SF, Nayak S, Suda-Hartman M, Lee PA. Witchel SF, et al. J Pediatr. 1997 Aug;131(2):328-31. doi: 10.1016/s0022-3476(97)70178-1. J Pediatr. 1997. PMID: 9290628
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
Witchel SF, Lee PA, Suda-Hartman M, Hoffman EP. Witchel SF, et al. Biochem Mol Med. 1997 Dec;62(2):151-8. doi: 10.1006/bmme.1997.2632. Biochem Mol Med. 1997. PMID: 9441866
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
Witchel SF, Lee PA. Witchel SF, et al. Am J Med Genet. 1998 Apr 1;76(4):337-42. Am J Med Genet. 1998. PMID: 9545098
Progressive virilization of a pubertal phenotypic female: 17 beta-hydroxysteroid dehydrogenase deficiency.
Park D, Lee PA, Witchel SF. Park D, et al. Among authors: witchel sf. J Pediatr Adolesc Gynecol. 1996 Feb;9(1):9-11. doi: 10.1016/s1083-3188(96)70003-7. J Pediatr Adolesc Gynecol. 1996. PMID: 9551369
17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17.
Witchel SF, Lee PA, Suda-Hartman M, Smith R, Hoffman EP. Witchel SF, et al. J Pediatr Adolesc Gynecol. 1998 Aug;11(3):133-7. doi: 10.1016/s1083-3188(98)70132-9. J Pediatr Adolesc Gynecol. 1998. PMID: 9704303
Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents.
Nayak S, Lee PA, Witchel SF. Nayak S, et al. Among authors: witchel sf. Mol Genet Metab. 1998 Jul;64(3):184-92. doi: 10.1006/mgme.1998.2715. Mol Genet Metab. 1998. PMID: 9719627
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
Witchel SF, Smith R, Suda-Hartman M. Witchel SF, et al. Hum Mutat. 1999;13(2):172. doi: 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N. Hum Mutat. 1999. PMID: 10094562
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