Desnick RJ - Search Results

1

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Scott SA, et al. Among authors: desnick rj. Hepatology. 2013 Sep;58(3):958-65. doi: 10.1002/hep.26327. Epub 2013 Jul 29. Hepatology. 2013. PMID: 23424026 Free PMC article.

2

Molecular prenatal diagnosis of glycogen storage disease type Ia.

Qu Y, Abdenur JE, Eng CM, Desnick RJ. Qu Y, et al. Among authors: desnick rj. Prenat Diagn. 1996 Apr;16(4):333-6. doi: 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G. Prenat Diagn. 1996. PMID: 8734807

3

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Grace ME, et al. Among authors: desnick rj. Hum Mutat. 2007 Sep;28(9):866-73. doi: 10.1002/humu.20524. Hum Mutat. 2007. PMID: 17464953

4

CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ. Scott SA, et al. Among authors: desnick rj. Pharmacogenomics. 2007 Jul;8(7):721-30. doi: 10.2217/14622416.8.7.721. Pharmacogenomics. 2007. PMID: 18240905

5

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Scott SA, Edelmann L, Kornreich R, Desnick RJ. Scott SA, et al. Among authors: desnick rj. Am J Hum Genet. 2008 Feb;82(2):495-500. doi: 10.1016/j.ajhg.2007.10.002. Epub 2008 Jan 17. Am J Hum Genet. 2008. PMID: 18252229 Free PMC article.

6

CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing.

Scott SA, Jaremko M, Lubitz SA, Kornreich R, Halperin JL, Desnick RJ. Scott SA, et al. Among authors: desnick rj. Pharmacogenomics. 2009 Aug;10(8):1243-55. doi: 10.2217/pgs.09.71. Pharmacogenomics. 2009. PMID: 19663669 Free PMC article.

7

Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ. Wozniak MA, et al. Among authors: desnick rj. Stroke. 2010 Jan;41(1):78-81. doi: 10.1161/STROKEAHA.109.558320. Epub 2009 Dec 10. Stroke. 2010. PMID: 20007919 Free PMC article.

8

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Scott SA, et al. Among authors: desnick rj. Genet Med. 2010 Feb;12(2):85-92. doi: 10.1097/GIM.0b013e3181cc75d0. Genet Med. 2010. PMID: 20084009 Free article.

9

Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.

Lubitz SA, Scott SA, Rothlauf EB, Agarwal A, Peter I, Doheny D, Van Der Zee S, Jaremko M, Yoo C, Desnick RJ, Halperin JL. Lubitz SA, et al. Among authors: desnick rj. J Thromb Haemost. 2010 May;8(5):1018-26. doi: 10.1111/j.1538-7836.2010.03792.x. Epub 2010 Feb 2. J Thromb Haemost. 2010. PMID: 20128861 Free PMC article.

10

Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups.

Scott SA, Khasawneh R, Peter I, Kornreich R, Desnick RJ. Scott SA, et al. Among authors: desnick rj. Pharmacogenomics. 2010 Jun;11(6):781-91. doi: 10.2217/pgs.10.49. Pharmacogenomics. 2010. PMID: 20504253 Free PMC article.

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