Berthelon M - Search Results

1

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: berthelon m. J Biol Chem. 1991 May 25;266(15):9351-4. J Biol Chem. 1991. PMID: 1709636 Free article.

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: berthelon m. 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: berthelon m. Hum Genet. 1992 Apr;89(1):69-72. doi: 10.1007/BF00207045. Hum Genet. 1992. PMID: 1349566

4

Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.

Berthelon M, Caillaud C, Rey F, Labrune P, Melle D, Feingold J, Frézal J, Briard ML, Farriaux JP, Guibaud P, et al. Berthelon M, et al. Hum Genet. 1991 Feb;86(4):355-8. doi: 10.1007/BF00201832. Hum Genet. 1991. PMID: 1671847

5

Two distinct mutations at a single BamHI site in phenylketonuria.

Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S. Melle D, et al. Among authors: berthelon m. J Med Genet. 1991 Jan;28(1):38-40. doi: 10.1136/jmg.28.1.38. J Med Genet. 1991. PMID: 1671881 Free PMC article.

6

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: berthelon m. Am J Hum Genet. 1991 Jun;48(6):1115-20. Am J Hum Genet. 1991. PMID: 2035532 Free PMC article.

7

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: berthelon m. Am J Hum Genet. 1989 Apr;44(4):511-7. Am J Hum Genet. 1989. PMID: 2564729 Free PMC article.

8

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: berthelon m. Genomics. 1989 Nov;5(4):936-9. doi: 10.1016/0888-7543(89)90137-7. Genomics. 1989. PMID: 2574153

9

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray JM, Frézal J, Munnich A, et al. Rey F, et al. Among authors: berthelon m. Am J Hum Genet. 1988 Dec;43(6):914-21. Am J Hum Genet. 1988. PMID: 2904221 Free PMC article.

10

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: berthelon m. Hum Mol Genet. 1993 Jan;2(1):31-4. doi: 10.1093/hmg/2.1.31. Hum Mol Genet. 1993. PMID: 8098245

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