Lyonnet S - Search Results

1

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: lyonnet s. 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.

2

[Advances in genetics: what benefits children?].

Lyonnet S, Bonnefont JP, Briard ML, Munnich A. Lyonnet S, et al. Presse Med. 1996 Nov 2;25(33):1575-6. Presse Med. 1996. PMID: 8952670 French.

3

[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].

Saudubray JM, Lyonnet S, Lombes A, Hervé F, Bonnefont JP, Munnich A, Ogier H. Saudubray JM, et al. Among authors: lyonnet s. J Genet Hum. 1989 Dec;37(4-5):299-310. J Genet Hum. 1989. PMID: 2635710 French. No abstract available.

4

Improvement of cystic fibrosis using antitumoral drugs: a hypothesis.

Faivre L, Bonnefont JP, Lyonnet S, Munnich A, Vekemans M. Faivre L, et al. Among authors: lyonnet s. Med Hypotheses. 2000 Apr;54(4):580-1. doi: 10.1054/mehy.1999.0899. Med Hypotheses. 2000. PMID: 10859642

5

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

Imessaoudene B, Bonnefont JP, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, Munnich A, Amiel J. Imessaoudene B, et al. Among authors: lyonnet s. J Med Genet. 2001 Mar;38(3):171-4. doi: 10.1136/jmg.38.3.171. J Med Genet. 2001. PMID: 11238684 Free PMC article.

6

Localisation of focal lesion permitting partial pancreatectomy in infants.

Lyonnet S, Bonnefont JP, Saudubray JM, Nihoule-Fekete C, Brunelle F. Lyonnet S, et al. Lancet. 1989 Sep 16;2(8664):671. doi: 10.1016/s0140-6736(89)90907-0. Lancet. 1989. PMID: 2570912 No abstract available.

7

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Gregersen N, Winter V, Lyonnet S, Saudubray JM, Wendel U, Jensen TG, Andresen BS, Kølvraa S, Lehnert W, Bolund L, et al. Gregersen N, et al. Among authors: lyonnet s. J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614. J Inherit Metab Dis. 1994. PMID: 7967471

8

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

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: lyonnet s. Am J Hum Genet. 1988 Dec;43(6):914-21. Am J Hum Genet. 1988. PMID: 2904221 Free PMC article.

10

[Rise of genetics: what are the benefits for children?].

Lyonnet S, Bonnefont JP, Briard ML, Munnich A. Lyonnet S, et al. Arch Pediatr. 1996;3 Suppl 1:347s-349s. doi: 10.1016/0929-693x(96)86100-8. Arch Pediatr. 1996. PMID: 8796075 French. No abstract available.

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