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229 results

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Pelletier V, et al. Among authors: bonnefont jp. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763
Clinical approach to inherited metabolic disorders in neonates.
Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A. Saudubray JM, et al. Among authors: bonnefont jp. Biol Neonate. 1990;58 Suppl 1:44-53. doi: 10.1159/000243299. Biol Neonate. 1990. PMID: 2265219 Review.
[Research methods in metabolic myopathies in children].
Lombes A, Ogier H, Bonnefont JP, Munnich A, Saudubray JM. Lombes A, et al. Among authors: bonnefont jp. Ann Med Interne (Paris). 1987;138(6):441-3. Ann Med Interne (Paris). 1987. PMID: 3324848 Review. French. No abstract available.
[Sulfite oxidase deficiency presenting as Leigh syndrome].
Amiel J, Gagey V, Rabier D, Dorche C, Bonnefont JP, Dufier JL, Saudubray JM, Rey J, Munnich A. Amiel J, et al. Among authors: bonnefont jp. Arch Pediatr. 1994 Nov;1(11):1023-7. Arch Pediatr. 1994. PMID: 7834040 French.
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A. Gilbert-Dussardier B, et al. Among authors: bonnefont jp. Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831. Hum Mol Genet. 1994. PMID: 8081373 No abstract available.
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Poggi-Travert F, Martin D, Billette de Villemeur T, Bonnefont JP, Vassault A, Rabier D, Charpentier C, Kamoun P, Munnich A, Saudubray JM. Poggi-Travert F, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1996;19(4):478-88. doi: 10.1007/BF01799109. J Inherit Metab Dis. 1996. PMID: 8884572 Review.
Clinical presentation of mitochondrial disorders in childhood.
Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P. Munnich A, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1996;19(4):521-7. doi: 10.1007/BF01799112. J Inherit Metab Dis. 1996. PMID: 8884575 Review.
Mitochondrial diabetes mellitus.
Rötig A, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: bonnefont jp. Diabetes Metab. 1996 Oct;22(5):291-8. Diabetes Metab. 1996. PMID: 8896989 Review.
229 results