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Page 1
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: bonnefont jp. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
[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.
[Rise of genetics: what are the benefits for children?].
Lyonnet S, Bonnefont JP, Briard ML, Munnich A. Lyonnet S, et al. Among authors: bonnefont jp. 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.
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.
228 results