Edelmann L - Search Results

1

Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU.

Scott SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. Scott SA, et al. Among authors: edelmann l. Pharmacogenomics. 2012 Feb;13(3):297-307. doi: 10.2217/pgs.11.156. Epub 2011 Dec 21. Pharmacogenomics. 2012. PMID: 22188360 Free PMC article.

2

Prenatal genetic screening in the Ashkenazi Jewish population.

Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Zinberg RE, et al. Among authors: edelmann l. Clin Perinatol. 2001 Jun;28(2):367-82. doi: 10.1016/s0095-5108(05)70089-0. Clin Perinatol. 2001. PMID: 11499058 Review.

3

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Edelmann L, Dong J, Desnick RJ, Kornreich R. Edelmann L, et al. Am J Hum Genet. 2002 Apr;70(4):1023-7. doi: 10.1086/339519. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845410 Free PMC article.

4

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Dong J, et al. Among authors: edelmann l. Am J Med Genet. 2002 Jul 1;110(3):253-7. doi: 10.1002/ajmg.10450. Am J Med Genet. 2002. PMID: 12116234

5

Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.

Kornreich R, Ekstein J, Edelmann L, Desnick RJ. Kornreich R, et al. Among authors: edelmann l. Genet Med. 2004 Sep-Oct;6(5):415-20. doi: 10.1097/01.gim.0000139510.00644.f7. Genet Med. 2004. PMID: 15371906

6

Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.

Edelmann L, Hashmi G, Song Y, Han Y, Kornreich R, Desnick RJ. Edelmann L, et al. Genet Med. 2004 Sep-Oct;6(5):431-8. doi: 10.1097/01.gim.0000140836.66050.88. Genet Med. 2004. PMID: 15371909

7

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: edelmann l. Pharmacogenomics. 2007 Jul;8(7):721-30. doi: 10.2217/14622416.8.7.721. Pharmacogenomics. 2007. PMID: 18240905

8

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: edelmann l. 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.

9

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: edelmann l. Genet Med. 2010 Feb;12(2):85-92. doi: 10.1097/GIM.0b013e3181cc75d0. Genet Med. 2010. PMID: 20084009 Free article.

10

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L. Scott SA, et al. Among authors: edelmann l. Hum Mol Genet. 2010 Sep 1;19(17):3383-93. doi: 10.1093/hmg/ddq250. Epub 2010 Jun 22. Hum Mol Genet. 2010. PMID: 20570968 Free PMC article.

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