Kelley RI - Search Results

1

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovárová M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. Krakowiak PA, et al. Among authors: kelley ri. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172. Hum Mol Genet. 2003. PMID: 12812989

2

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. Wassif CA, et al. Among authors: kelley ri. Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555. Hum Mol Genet. 2001. PMID: 11230174

3

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

4

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD. Wassif CA, et al. Among authors: kelley ri. Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513191 Free PMC article. Clinical Trial.

5

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.

Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA. Cooper MK, et al. Among authors: kelley ri. Nat Genet. 2003 Apr;33(4):508-13. doi: 10.1038/ng1134. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652302

6

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

7

3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.

Kelley RI, Kratz L. Kelley RI, et al. Pediatr Res. 1995 May;37(5):671-4. doi: 10.1203/00006450-199505000-00020. Pediatr Res. 1995. PMID: 7603789

8

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Cunniff C, et al. Among authors: kelley ri. Am J Med Genet. 1997 Jan 31;68(3):263-9. Am J Med Genet. 1997. PMID: 9024557

9

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

Pei W, Kratz LE, Bernardini I, Sood R, Yokogawa T, Dorward H, Ciccone C, Kelley RI, Anikster Y, Burgess HA, Huizing M, Feldman B. Pei W, et al. Among authors: kelley ri. Development. 2010 Aug 1;137(15):2587-96. doi: 10.1242/dev.043745. Development. 2010. PMID: 20627962 Free PMC article.

10

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Schaaf CP, et al. Among authors: kelley ri. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671375 Free PMC article. Review.

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