Edelmann L - Search Results

1

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Scott SA, et al. Among authors: edelmann l. Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327. Hum Mutat. 2010. PMID: 20672374 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

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Edelmann L, et al. Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16. Am J Hum Genet. 2001. PMID: 11509994 Free PMC article.

4

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.

5

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

6

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

7

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

8

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

9

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.

10

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, Kornreich R. Lee KA, et al. Among authors: edelmann l. Clin Genet. 2009 Feb;75(2):190-4. doi: 10.1111/j.1399-0004.2008.01085.x. Epub 2008 Aug 26. Clin Genet. 2009. PMID: 18759865

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