Kelley RI - Search Results

1

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Cragun DL, Trumpy SK, Shackleton CH, Kelley RI, Leslie ND, Mulrooney NP, Hopkin RJ. Cragun DL, et al. Among authors: kelley ri. Am J Med Genet A. 2004 Aug 15;129A(1):1-7. doi: 10.1002/ajmg.a.30170. Am J Med Genet A. 2004. PMID: 15266606

2

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).

Shackleton CH, Marcos J, Palomaki GE, Craig WY, Kelley RI, Kratz LE, Haddow JE. Shackleton CH, et al. Among authors: kelley ri. Am J Med Genet A. 2007 Sep 15;143A(18):2129-36. doi: 10.1002/ajmg.a.31901. Am J Med Genet A. 2007. PMID: 17702049 Clinical Trial.

3

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR. Williamson L, et al. Among authors: kelley ri. Am J Med Genet A. 2006 Sep 1;140A(17):1797-803. doi: 10.1002/ajmg.a.31385. Am J Med Genet A. 2006. PMID: 16906539

4

Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency).

Shackleton CH, Roitman E, Kratz LE, Kelley RI. Shackleton CH, et al. Among authors: kelley ri. Steroids. 1999 Jul;64(7):446-52. doi: 10.1016/s0039-128x(99)00026-4. Steroids. 1999. PMID: 10443900

5

Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus.

Shackleton CH, Roitman E, Kratz LE, Kelley RI. Shackleton CH, et al. Among authors: kelley ri. J Clin Endocrinol Metab. 1999 Mar;84(3):1157-9. doi: 10.1210/jcem.84.3.5660. J Clin Endocrinol Metab. 1999. PMID: 10084612

6

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Kelley RI, et al. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510. Am J Med Genet. 2002. PMID: 12116245

7

Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency.

Shackleton CH, Roitman E, Kelley R. Shackleton CH, et al. Steroids. 1999 Jul;64(7):481-90. doi: 10.1016/s0039-128x(99)00022-7. Steroids. 1999. PMID: 10443904

8

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.

Craig WY, Haddow JE, Palomaki GE, Kelley RI, Kratz LE, Shackleton CH, Marcos J, Stephen Tint G, MacRae AR, Nowaczyk MJ, Kloza EM, Irons MB, Roberson M. Craig WY, et al. Among authors: kelley ri. Prenat Diagn. 2006 Sep;26(9):842-9. doi: 10.1002/pd.1518. Prenat Diagn. 2006. PMID: 16832833

9

Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome.

Shackleton CH, Roitman E, Kratz L, Kelley R. Shackleton CH, et al. Prenat Diagn. 2001 Mar;21(3):207-12. doi: 10.1002/1097-0223(200103)21:3<207::aid-pd27>3.0.co;2-i. Prenat Diagn. 2001. PMID: 11260610

10

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G. Witsch-Baumgartner M, et al. Among authors: kelley ri. J Med Genet. 2004 Aug;41(8):577-84. doi: 10.1136/jmg.2004.018085. J Med Genet. 2004. PMID: 15286151 Free PMC article.

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