Labrune P - Search Results

1

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

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: labrune p. Hum Genet. 1991 Feb;86(4):355-8. doi: 10.1007/BF00201832. Hum Genet. 1991. PMID: 1671847

3

[Correlations between genotype and phenotype in children with phenylketonuria?].

Labrune P, Lyonnet S. Labrune P, et al. Arch Fr Pediatr. 1991 May;48(5):369-70. Arch Fr Pediatr. 1991. PMID: 1859242 Review. French. No abstract available.

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

5

[Problems stemming from pregnancy in a woman with phenylketonuria].

Labrune P, Brunet C, Rey F, Pons JC, Dauphin F, Leroy D, Odièvre M. Labrune P, et al. Arch Fr Pediatr. 1989 Aug-Sep;46(7):509-11. Arch Fr Pediatr. 1989. PMID: 2596950 French.

6

[Evaluation of diagnostic and therapeutic methods in hyperinsulinism in newborn infants and infants. Apropos of a retrospective study of 26 cases].

Labrune P, Bonnefont JP, Nihoul-Fékété C, Nezeloff C, Gepts W, Czernichow P, Rappaport R, Saudubray JM. Labrune P, et al. Arch Fr Pediatr. 1989 Mar;46(3):167-73. Arch Fr Pediatr. 1989. PMID: 2735806 French.

7

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: labrune p. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

8

CHARGE syndrome: report of 47 cases and review.

Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Among authors: labrune p. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.

9

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Labrune P, Myara A, Hadchouel M, Ronchi F, Bernard O, Trivin F, Chowdhury NR, Chowdhury JR, Munnich A, Odièvre M. Labrune P, et al. Hum Genet. 1994 Dec;94(6):693-7. doi: 10.1007/BF00206965. Hum Genet. 1994. PMID: 7989045

10

Familial hypermethioninemia partially responsive to dietary restriction.

Labrune P, Perignon JL, Rault M, Brunet C, Lutun H, Charpentier C, Saudubray JM, Odievre M. Labrune P, et al. J Pediatr. 1990 Aug;117(2 Pt 1):220-6. doi: 10.1016/s0022-3476(05)80533-5. J Pediatr. 1990. PMID: 2380820

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