Kratz LE - Search Results

1

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: kratz le. Development. 2010 Aug 1;137(15):2587-96. doi: 10.1242/dev.043745. Development. 2010. PMID: 20627962 Free PMC article.

2

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

3

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. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172. Hum Mol Genet. 2003. PMID: 12812989

4

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.

Driver AM, Kratz LE, Kelley RI, Stottmann RW. Driver AM, et al. Among authors: kratz le. Neurobiol Dis. 2016 Jul;91:69-82. doi: 10.1016/j.nbd.2016.02.017. Epub 2016 Feb 24. Neurobiol Dis. 2016. PMID: 26921468 Free PMC article.

5

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. 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.

6

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. Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555. Hum Mol Genet. 2001. PMID: 11230174

7

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

8

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: kratz le. 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.

9

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

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

10

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J. He M, et al. Among authors: kratz le. J Clin Invest. 2011 Mar;121(3):976-84. doi: 10.1172/JCI42650. J Clin Invest. 2011. PMID: 21285510 Free PMC article.

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