Patel SB - Search Results

1

Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.

Kanuri B, Fong V, Ponny SR, Tallman KA, Rao SR, Porter N, Fliesler SJ, Patel SB. Kanuri B, et al. Among authors: patel sb. J Lipid Res. 2021;62:100002. doi: 10.1194/jlr.RA120001101. Epub 2020 Nov 22. J Lipid Res. 2021. PMID: 33410752 Free PMC article.

2

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Yu H, et al. Among authors: patel sb. Hum Mol Genet. 2000 May 22;9(9):1385-91. doi: 10.1093/hmg/9.9.1385. Hum Mol Genet. 2000. PMID: 10814720

3

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C. Mueller C, et al. Am J Med Genet A. 2003 Nov 15;123A(1):100-6. doi: 10.1002/ajmg.a.20491. Am J Med Genet A. 2003. PMID: 14556255 Free PMC article.

4

Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome.

Yu H, Wessels A, Chen J, Phelps AL, Oatis J, Tint GS, Patel SB. Yu H, et al. Among authors: patel sb. BMC Dev Biol. 2004 Feb 2;4:1. doi: 10.1186/1471-213X-4-1. BMC Dev Biol. 2004. PMID: 15005800 Free PMC article.

5

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H, Patel SB. Yu H, et al. Among authors: patel sb. Clin Genet. 2005 Nov;68(5):383-91. doi: 10.1111/j.1399-0004.2005.00515.x. Clin Genet. 2005. PMID: 16207203 Free PMC article. Review.

6

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.

Solcà C, Pandit B, Yu H, Tint GS, Patel SB. Solcà C, et al. Among authors: patel sb. Mol Genet Metab. 2007 May;91(1):7-14. doi: 10.1016/j.ymgme.2006.11.009. Epub 2007 Jan 2. Mol Genet Metab. 2007. PMID: 17197219 Free PMC article.

7

ABCG5 and ABCG8: more than a defense against xenosterols.

Patel SB, Graf GA, Temel RE. Patel SB, et al. J Lipid Res. 2018 Jul;59(7):1103-1113. doi: 10.1194/jlr.R084244. Epub 2018 May 4. J Lipid Res. 2018. PMID: 29728459 Free PMC article. Review.

8

Mice lacking global Stap1 expression do not manifest hypercholesterolemia.

Kanuri B, Fong V, Haller A, Hui DY, Patel SB. Kanuri B, et al. Among authors: patel sb. BMC Med Genet. 2020 Nov 23;21(1):234. doi: 10.1186/s12881-020-01176-x. BMC Med Genet. 2020. PMID: 33228548 Free PMC article.

9

Recent advances in ABCG5 and ABCG8 variants.

Fong V, Patel SB. Fong V, et al. Among authors: patel sb. Curr Opin Lipidol. 2021 Apr 1;32(2):117-122. doi: 10.1097/MOL.0000000000000734. Curr Opin Lipidol. 2021. PMID: 33395105 Free PMC article. Review.

10

Generation and validation of a conditional knockout mouse model for desmosterolosis.

Kanuri B, Fong V, Ponny SR, Weerasekera R, Pulakanti K, Patel KS, Tyshynsky R, Patel SB. Kanuri B, et al. Among authors: patel sb, patel ks. J Lipid Res. 2021;62:100028. doi: 10.1016/j.jlr.2021.100028. Epub 2021 Jan 30. J Lipid Res. 2021. PMID: 33524375 Free PMC article.

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