Beutler E - Search Results

1

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. Zimran A, et al. Among authors: beutler e. Am J Hum Genet. 1991 Oct;49(4):855-9. Am J Hum Genet. 1991. PMID: 1897529 Free PMC article.

2

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

Zimran A, Gelbart T, Beutler E. Zimran A, et al. Among authors: beutler e. Am J Hum Genet. 1990 May;46(5):902-5. Am J Hum Genet. 1990. PMID: 1971142 Free PMC article.

3

Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.

Beutler E, Gelbart T. Beutler E, et al. Ann Hum Genet. 1990 May;54(2):149-53. doi: 10.1111/j.1469-1809.1990.tb00371.x. Ann Hum Genet. 1990. PMID: 1974409

4

Two new Gaucher disease mutations.

Beutler E, Gelbart T. Beutler E, et al. Hum Genet. 1994 Feb;93(2):209-10. doi: 10.1007/BF00210614. Hum Genet. 1994. PMID: 8112750

5

Gaucher disease: gene frequencies in the Ashkenazi Jewish population.

Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, Gelbart T. Beutler E, et al. Am J Hum Genet. 1993 Jan;52(1):85-8. Am J Hum Genet. 1993. PMID: 8434610 Free PMC article.

6

Prenatal molecular diagnosis of Gaucher disease.

Zimran A, Elstein D, Abrahamov A, Kuhl W, Brown KH, Beutler E. Zimran A, et al. Among authors: beutler e. Prenat Diagn. 1995 Dec;15(12):1185-8. doi: 10.1002/pd.1970151219. Prenat Diagn. 1995. PMID: 8750303

7

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.

Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E. Zimran A, et al. Among authors: beutler e. Medicine (Baltimore). 1992 Nov;71(6):337-53. Medicine (Baltimore). 1992. PMID: 1435229

8

Mutation analysis in Gaucher disease.

Beutler E, Gelbart T. Beutler E, et al. Am J Med Genet. 1992 Oct 1;44(3):389-90. doi: 10.1002/ajmg.1320440328. Am J Med Genet. 1992. PMID: 1488994 No abstract available.

9

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A. Brautbar A, et al. Among authors: beutler e. Blood Cells Mol Dis. 2003 Sep-Oct;31(2):187-9; discussion 190-1. doi: 10.1016/s1079-9796(03)00126-8. Blood Cells Mol Dis. 2003. PMID: 12972024

10

Mutations in Jewish patients with Gaucher disease.

Beutler E, Gelbart T, Kuhl W, Zimran A, West C. Beutler E, et al. Blood. 1992 Apr 1;79(7):1662-6. Blood. 1992. PMID: 1558964 Free article.

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