Rey J - Search Results

1

CpG dinucleotides are mutation hot spots in phenylketonuria.

Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A. Abadie V, et al. Among authors: rey j, rey f. Genomics. 1989 Nov;5(4):936-9. doi: 10.1016/0888-7543(89)90137-7. Genomics. 1989. PMID: 2574153

2

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J. Rey F, et al. Among authors: rey j. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.

3

Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

Caillaud C, Vilarinho L, Vilarinho A, Rey F, Berthelon M, Santos R, Lyonnet S, Briard ML, Osorio RV, Rey J, et al. Caillaud C, et al. Among authors: rey j, rey f. Hum Genet. 1992 Apr;89(1):69-72. doi: 10.1007/BF00207045. Hum Genet. 1992. PMID: 1349566

4

A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

Caillaud C, Lyonnet S, Rey F, Melle D, Frebourg T, Berthelon M, Vilarinho L, Vaz Osorio R, Rey J, Munnich A. Caillaud C, et al. Among authors: rey j, rey f. J Biol Chem. 1991 May 25;266(15):9351-4. J Biol Chem. 1991. PMID: 1709636 Free article.

5

Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S. Labrune P, et al. Among authors: rey j, rey f. Am J Hum Genet. 1991 Jun;48(6):1115-20. Am J Hum Genet. 1991. PMID: 2035532 Free PMC article.

6

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A. Lyonnet S, et al. Among authors: rey j, rey f. Am J Hum Genet. 1989 Apr;44(4):511-7. Am J Hum Genet. 1989. PMID: 2564729 Free PMC article.

7

[Prenatal screening for phenylketonuria in 2 families by trophoblast biopsy].

Rey F, Berthelon M, Munnich A, Frézal J, Rey J. Rey F, et al. Among authors: rey j. Arch Fr Pediatr. 1987 Oct;44(8):565-8. Arch Fr Pediatr. 1987. PMID: 2894821 French.

8

Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

Abadie V, Jaruzelska J, Lyonnet S, Millasseau P, Berthelon M, Rey F, Munnich A, Rey J. Abadie V, et al. Among authors: rey j, rey f. Hum Mol Genet. 1993 Jan;2(1):31-4. doi: 10.1093/hmg/2.1.31. Hum Mol Genet. 1993. PMID: 8098245

9

[Intellectual development after relaxing the diet at the age of 5 years in typical phenylketonuria].

Abadie V, Rey F, Plainguet F, Rey J. Abadie V, et al. Among authors: rey j, rey f. Arch Fr Pediatr. 1992 Nov;49(9):773-8. Arch Fr Pediatr. 1992. PMID: 1300964 French.

10

[Catalog of mutations of the phenylalanine hydroxylase gene].

Rey F, Rey J. Rey F, et al. Among authors: rey j. Arch Fr Pediatr. 1992 Jan;49(1):63-5. Arch Fr Pediatr. 1992. PMID: 1550456 Review. French. No abstract available.

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