Kornreich R - Search Results

1

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Wasserstein MP, et al. Among authors: kornreich r. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093709 Free PMC article.

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. Genomics. 1992 May;13(1):70-4. doi: 10.1016/0888-7543(92)90203-5. Genomics. 1992. PMID: 1349583

3

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. J Biol Chem. 1990 Jun 5;265(16):9319-26. J Biol Chem. 1990. PMID: 2160973 Free article.

4

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: kornreich r. J Clin Invest. 1989 Apr;83(4):1390-9. doi: 10.1172/JCI114027. J Clin Invest. 1989. PMID: 2539398 Free PMC article.

5

Nucleotide sequence of the human alpha-galactosidase A gene.

Kornreich R, Desnick RJ, Bishop DF. Kornreich R, et al. 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.

6

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

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

7

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: kornreich r. 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.

8

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. Hum Mutat. 1993;2(2):108-11. doi: 10.1002/humu.1380020208. Hum Mutat. 1993. PMID: 8318986

9

Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.

Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ. Dong J, et al. Among authors: kornreich r. Mol Genet Metab. 2001 Jun;73(2):160-3. doi: 10.1006/mgme.2001.3182. Mol Genet Metab. 2001. PMID: 11386851

10

Prenatal genetic screening in the Ashkenazi Jewish population.

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

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