Kelley RI - Search Results

1

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: kelley ri. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.

2

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.

Andersson HC, Kratz L, Kelley R. Andersson HC, et al. Am J Med Genet. 2002 Dec 15;113(4):315-9. doi: 10.1002/ajmg.b.10873. Am J Med Genet. 2002. PMID: 12457401

3

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE. Hummel M, et al. Among authors: kelley ri. Am J Med Genet A. 2003 Oct 15;122A(3):246-51. doi: 10.1002/ajmg.a.20248. Am J Med Genet A. 2003. PMID: 12966526

4

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley RI, Herman GE. Caldas H, et al. Among authors: kelley ri. Mol Genet Metab. 2005 Jan;84(1):48-60. doi: 10.1016/j.ymgme.2004.08.007. Mol Genet Metab. 2005. PMID: 15639195

5

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

Grange DK, Kratz LE, Braverman NE, Kelley RI. Grange DK, et al. Among authors: kelley ri. Am J Med Genet. 2000 Feb 14;90(4):328-35. doi: 10.1002/(sici)1096-8628(20000214)90:4<328::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10710233

6

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

Stottmann RW, Turbe-Doan A, Tran P, Kratz LE, Moran JL, Kelley RI, Beier DR. Stottmann RW, et al. Among authors: kelley ri. PLoS Genet. 2011 Sep;7(9):e1002224. doi: 10.1371/journal.pgen.1002224. Epub 2011 Sep 1. PLoS Genet. 2011. PMID: 21912524 Free PMC article.

7

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

Kratz LE, Kelley RI. Kratz LE, et al. Among authors: kelley ri. Am J Med Genet. 1999 Feb 19;82(5):376-81. Am J Med Genet. 1999. PMID: 10069707

8

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

9

Inborn errors of sterol biosynthesis.

Kelley RI, Herman GE. Kelley RI, et al. Annu Rev Genomics Hum Genet. 2001;2:299-341. doi: 10.1146/annurev.genom.2.1.299. Annu Rev Genomics Hum Genet. 2001. PMID: 11701653 Review.

10

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS. Kelley RI, et al. Am J Med Genet. 1999 Mar 19;83(3):213-9. doi: 10.1002/(sici)1096-8628(19990319)83:3<213::aid-ajmg15>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10096601

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