Desnick RJ - Search Results

1

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

2

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.

Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Sakuraba H, et al. Among authors: desnick rj. Genomics. 1992 Apr;12(4):643-50. doi: 10.1016/0888-7543(92)90288-4. Genomics. 1992. PMID: 1315304

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

Fabry disease: an unusual cause of severe coronary disease in a young man.

Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fisher EA, et al. Among authors: desnick rj. Ann Intern Med. 1992 Aug 1;117(3):221-3. doi: 10.7326/0003-4819-117-3-221. Ann Intern Med. 1992. PMID: 1616216 No abstract available.

5

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.

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

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Eng CM, et al. Among authors: desnick rj. Am J Hum Genet. 1993 Dec;53(6):1186-97. Am J Hum Genet. 1993. PMID: 7504405 Free PMC article.

8

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Eng CM, et al. Among authors: desnick rj. Hum Mol Genet. 1994 Oct;3(10):1795-9. doi: 10.1093/hmg/3.10.1795. Hum Mol Genet. 1994. PMID: 7531540

9

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

Eng CM, Desnick RJ. Eng CM, et al. Among authors: desnick rj. Hum Mutat. 1994;3(2):103-11. doi: 10.1002/humu.1380030204. Hum Mutat. 1994. PMID: 7911050 Review.

10

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.

Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ. Eng CM, et al. Among authors: desnick rj. Am J Med Genet. 1995 Nov 20;59(3):349-55. doi: 10.1002/ajmg.1320590314. Am J Med Genet. 1995. PMID: 8599360

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

602 results

Search Page

Filters