Desnick RJ - Search Results

1

Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

Peter I, Mitchell AA, Ozelius L, Erazo M, Hu J, Doheny D, Abreu MT, Present DH, Ullman T, Benkov K, Korelitz BI, Mayer L, Desnick RJ; New York Crohn's Disease Working Group. Peter I, et al. Among authors: desnick rj. BMC Med Genet. 2011 May 6;12:63. doi: 10.1186/1471-2350-12-63. BMC Med Genet. 2011. PMID: 21548950 Free PMC article.

2

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

Li L, Eng C, Desnick RJ, German J, Ellis NA. Li L, et al. Among authors: desnick rj. Mol Genet Metab. 1998 Aug;64(4):286-90. doi: 10.1006/mgme.1998.2733. Mol Genet Metab. 1998. PMID: 9758720

3

Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.

Desnick RJ, Korf B, Blitzer MG, Saul R. Desnick RJ, et al. Am J Med Genet. 2000 Jan 17;90(2):169-72. doi: 10.1002/(sici)1096-8628(20000117)90:2<169::aid-ajmg16>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10607959 No abstract available.

4

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Diaz GA, et al. Among authors: desnick rj. Am J Hum Genet. 2000 Jun;66(6):1821-32. doi: 10.1086/302946. Epub 2000 Apr 21. Am J Hum Genet. 2000. PMID: 10777718 Free PMC article.

5

Prenatal genetic screening in the Ashkenazi Jewish population.

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

6

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases.

Eng CM, Desnick RJ. Eng CM, et al. Among authors: desnick rj. Adv Genet. 2001;44:275-96. doi: 10.1016/s0065-2660(01)44086-7. Adv Genet. 2001. PMID: 11596990 Review.

7

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

Edelmann L, Dong J, Desnick RJ, Kornreich R. Edelmann L, et al. Among authors: desnick rj. 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.

8

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: desnick rj. Am J Med Genet. 2002 Jul 1;110(3):253-7. doi: 10.1002/ajmg.10450. Am J Med Genet. 2002. PMID: 12116234

9

Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.

Tukel T, Shalata A, Present D, Rachmilewitz D, Mayer L, Grant D, Risch N, Desnick RJ. Tukel T, et al. Among authors: desnick rj. Am J Hum Genet. 2004 Apr;74(4):623-36. doi: 10.1086/382226. Epub 2004 Mar 5. Am J Hum Genet. 2004. PMID: 15024686 Free PMC article.

10

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: desnick rj. Genet Med. 2004 Sep-Oct;6(5):415-20. doi: 10.1097/01.gim.0000139510.00644.f7. Genet Med. 2004. PMID: 15371906

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