Desnick RJ - Search Results

1

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

2

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A.

Kornreich R, Astrin KH, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. Genomics. 1992 May;13(1):70-4. doi: 10.1016/0888-7543(92)90203-5. Genomics. 1992. PMID: 1349583

3

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: desnick rj. Blood. 1992 Oct 15;80(8):2081-7. Blood. 1992. PMID: 1391960 Free article.

4

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

Levran O, Desnick RJ, Schuchman EH. Levran O, et al. Among authors: desnick rj. Proc Natl Acad Sci U S A. 1991 May 1;88(9):3748-52. doi: 10.1073/pnas.88.9.3748. Proc Natl Acad Sci U S A. 1991. PMID: 2023926 Free PMC article.

5

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

Kornreich R, Bishop DF, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. J Biol Chem. 1990 Jun 5;265(16):9319-26. J Biol Chem. 1990. PMID: 2160973 Free article.

6

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ. Bernstein HS, et al. Among authors: desnick rj. J Clin Invest. 1989 Apr;83(4):1390-9. doi: 10.1172/JCI114027. J Clin Invest. 1989. PMID: 2539398 Free PMC article.

7

Nucleotide sequence of the human alpha-galactosidase A gene.

Kornreich R, Desnick RJ, Bishop DF. Kornreich R, et al. Among authors: desnick rj. Nucleic Acids Res. 1989 Apr 25;17(8):3301-2. doi: 10.1093/nar/17.8.3301. Nucleic Acids Res. 1989. PMID: 2542896 Free PMC article. No abstract available.

8

The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

Kornreich R, Bishop DF, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. Trans Assoc Am Physicians. 1989;102:30-43. Trans Assoc Am Physicians. 1989. PMID: 2561643 No abstract available.

9

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

Bishop DF, Kornreich R, Desnick RJ. Bishop DF, et al. Among authors: desnick rj. Proc Natl Acad Sci U S A. 1988 Jun;85(11):3903-7. doi: 10.1073/pnas.85.11.3903. Proc Natl Acad Sci U S A. 1988. PMID: 2836863 Free PMC article.

10

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.

Kornreich R, Desnick RJ. Kornreich R, et al. Among authors: desnick rj. Hum Mutat. 1993;2(2):108-11. doi: 10.1002/humu.1380020208. Hum Mutat. 1993. PMID: 8318986

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