Melle D - Search Results

1

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

Lyonnet S, Melle D, de Braekeleer M, Laframboise R, Rey F, John SW, Berthelon M, Berthelot J, Journel H, Le Marec B, et al. Lyonnet S, et al. Among authors: melle d. Am J Hum Genet. 1992 Jul;51(1):191-6. Am J Hum Genet. 1992. PMID: 1609797 Free PMC article.

2

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. Among authors: melle d. Hum Genet. 1991 Feb;86(4):355-8. doi: 10.1007/BF00201832. Hum Genet. 1991. PMID: 1671847

3

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. 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.

4

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

5

[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: melle d. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.

6

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

7

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

Bénit P, Rey F, Melle D, Munnich A, Rey J. Bénit P, et al. Among authors: melle d. Hum Mutat. 1994;4(3):229-31. doi: 10.1002/humu.1380040311. Hum Mutat. 1994. PMID: 7833954 No abstract available.

8

Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.

Bénit P, Rey F, Melle D, Munnich A, Rey J. Bénit P, et al. Among authors: melle d. Hum Mol Genet. 1994 Apr;3(4):675-6. doi: 10.1093/hmg/3.4.675. Hum Mol Genet. 1994. PMID: 8069318 No abstract available.

9

The phenylketonuria G272X haplotype 7 mutation in European populations.

Apold J, Eiken HG, Svensson E, Kunert E, Kozak L, Cechak P, Güttler F, Giltay J, Lichter-Konecki U, Melle D, et al. Apold J, et al. Among authors: melle d. Hum Genet. 1993 Sep;92(2):107-9. doi: 10.1007/BF00219674. Hum Genet. 1993. PMID: 8370573

10

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

Jaruzelska J, Melle D, Matuszak R, Borski K, Munnich A. Jaruzelska J, et al. Among authors: melle d. Hum Mol Genet. 1992 Dec;1(9):763-4. doi: 10.1093/hmg/1.9.763. Hum Mol Genet. 1992. PMID: 1363837 No abstract available.

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