Witchel SF - Search Results

1

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.

2

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

3

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

4

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

5

CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.

Witchel SF, Smith R, Crivellaro CE, Della Manna T, Dichtchekenian V, Setian N, Damiani D. Witchel SF, et al. Hum Genet. 2000 Apr;106(4):414-9. doi: 10.1007/s004390000276. Hum Genet. 2000. PMID: 10830908

6

Monozygotic twins with congenital adrenal hyperplasia: long-term endocrine evaluation and gene analysis.

AvRuskin TW, Witchel SF, Taha DR, Juan CS. AvRuskin TW, et al. Among authors: witchel sf. J Pediatr Endocrinol Metab. 2003 Apr-May;16(4):565-70. doi: 10.1515/jpem.2003.16.4.565. J Pediatr Endocrinol Metab. 2003. PMID: 12793610

7

46,XX patients with congenital adrenal hyperplasia: initial assignment as male, reassigned female.

Lee PA, Witchel SF. Lee PA, et al. Among authors: witchel sf. J Pediatr Endocrinol Metab. 2005 Feb;18(2):125-32. doi: 10.1515/jpem.2005.18.2.125. J Pediatr Endocrinol Metab. 2005. PMID: 15751601

8

Congenital adrenal hyperplasia.

Demirci C, Witchel SF. Demirci C, et al. Among authors: witchel sf. Dermatol Ther. 2008 Sep-Oct;21(5):340-53. doi: 10.1111/j.1529-8019.2008.00216.x. Dermatol Ther. 2008. PMID: 18844712 Review.

9

The medical home concept and congenital adrenal hyperplasia: a comfortable habitat!

Witchel SF. Witchel SF. Int J Pediatr Endocrinol. 2010;2010:561526. doi: 10.1155/2010/561526. Epub 2010 Jun 8. Int J Pediatr Endocrinol. 2010. PMID: 20628559 Free PMC article.

10

Nonclassic congenital adrenal hyperplasia.

Witchel SF, Azziz R. Witchel SF, et al. Int J Pediatr Endocrinol. 2010;2010:625105. doi: 10.1155/2010/625105. Epub 2010 Jun 30. Int J Pediatr Endocrinol. 2010. PMID: 20671993 Free PMC article.

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