Brody LC - Search Results

1

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

Michaud J, Thompson GN, Brody LC, Steel G, Obie C, Fontaine G, Schappert K, Keith CG, Valle D, Mitchell GA. Michaud J, et al. Among authors: brody lc. Am J Hum Genet. 1995 Mar;56(3):616-22. Am J Hum Genet. 1995. PMID: 7887415 Free PMC article. Clinical Trial.

2

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G. Michaud J, et al. Among authors: brody lc. Genomics. 1992 Jun;13(2):389-94. doi: 10.1016/0888-7543(92)90258-t. Genomics. 1992. PMID: 1612597

3

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

Mitchell GA, Labuda D, Fontaine G, Saudubray JM, Bonnefont JP, Lyonnet S, Brody LC, Steel G, Obie C, Valle D. Mitchell GA, et al. Among authors: brody lc. Proc Natl Acad Sci U S A. 1991 Feb 1;88(3):815-9. doi: 10.1073/pnas.88.3.815. Proc Natl Acad Sci U S A. 1991. PMID: 1992472 Free PMC article.

4

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

Brody LC, Mitchell GA, Obie C, Michaud J, Steel G, Fontaine G, Robert MF, Sipila I, Kaiser-Kupfer M, Valle D. Brody LC, et al. J Biol Chem. 1992 Feb 15;267(5):3302-7. J Biol Chem. 1992. PMID: 1737786 Free article.

5

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

Mitchell GA, Brody LC, Sipila I, Looney JE, Wong C, Engelhardt JF, Patel AS, Steel G, Obie C, Kaiser-Kupfer M, et al. Mitchell GA, et al. Among authors: brody lc. Proc Natl Acad Sci U S A. 1989 Jan;86(1):197-201. doi: 10.1073/pnas.86.1.197. Proc Natl Acad Sci U S A. 1989. PMID: 2492100 Free PMC article.

6

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Mitchell GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, Der Kaloustian V, Kaiser-Kupfer M, Valle D. Mitchell GA, et al. Among authors: brody lc. J Clin Invest. 1988 Feb;81(2):630-3. doi: 10.1172/JCI113365. J Clin Invest. 1988. PMID: 3339136 Free PMC article.

7

Expression and processing of human ornithine-delta-aminotransferase in Saccharomyces cerevisiae.

Dougherty KM, Swanson DA, Brody LC, Valle D. Dougherty KM, et al. Among authors: brody lc. Hum Mol Genet. 1993 Nov;2(11):1835-40. doi: 10.1093/hmg/2.11.1835. Hum Mol Genet. 1993. PMID: 8281144

8

A polymorphic synonymous mutation in human ornithine-delta-aminotransferase (N378N).

Martin LS, Mitchell GA, Michaud J, Brody LC, Valle D. Martin LS, et al. Among authors: brody lc. Nucleic Acids Res. 1991 Apr 25;19(8):1962. doi: 10.1093/nar/19.8.1962. Nucleic Acids Res. 1991. PMID: 2030983 Free PMC article.

9

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

Mitchell GA, Looney JE, Brody LC, Steel G, Suchanek M, Engelhardt JF, Willard HF, Valle D. Mitchell GA, et al. Among authors: brody lc. J Biol Chem. 1988 Oct 5;263(28):14288-95. J Biol Chem. 1988. PMID: 3170546 Free article.

10

[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].

Sipilä I, Valle D, Mitchell GA, Brody LC. Sipilä I, et al. Among authors: brody lc. Duodecim. 1994;110(7):681-6. Duodecim. 1994. PMID: 8542823 Review. Finnish. No abstract available.

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