Kratz L - Search Results

1

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: kratz l. 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.

2

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.

Andersson HC, Kratz L, Kelley R. Andersson HC, et al. Among authors: kratz l. 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

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: kratz l. 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.

4

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

5

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

6

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.

7

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. Among authors: kratz le. 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

8

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: kratz le. 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

9

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

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

10

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

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