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Page 1
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L. Rio M, et al. Among authors: bonnefont jp. Eur J Hum Genet. 2010 Mar;18(3):285-90. doi: 10.1038/ejhg.2009.159. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844254 Free PMC article.
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.
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.
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