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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1985 1
1987 2
1988 3
1989 17
1990 10
1991 6
1992 7
1994 6
1995 1
1996 10
1997 5
1998 2
1999 7
2000 11
2001 7
2002 6
2003 9
2004 5
2005 6
2006 8
2007 6
2008 4
2009 6
2010 8
2011 10
2012 10
2013 14
2014 7
2015 11
2016 7
2017 8
2018 9
2019 11
2020 6
2021 7
2022 1
2023 1
2024 0

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227 results

Results by year

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Page 1
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.
Carnitine palmitoyltransferase deficiencies.
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. Bonnefont JP, et al. Mol Genet Metab. 1999 Dec;68(4):424-40. doi: 10.1006/mgme.1999.2938. Mol Genet Metab. 1999. PMID: 10607472 Review.
Molecular diagnostics of mitochondrial disorders.
Rötig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: bonnefont jp. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):129-35. doi: 10.1016/j.bbabio.2004.07.007. Biochim Biophys Acta. 2004. PMID: 15576044 Free article. Review.
Clinical utility gene card: for incontinentia pigmenti.
Fusco F, Pescatore A, Steffann J, Bonnefont JP, De Oliveira J, Lioi MB, Ursini MV. Fusco F, et al. Among authors: bonnefont jp. Eur J Hum Genet. 2019 Dec;27(12):1894-1900. doi: 10.1038/s41431-019-0463-9. Epub 2019 Jul 9. Eur J Hum Genet. 2019. PMID: 31289372 Free PMC article. No abstract available.
Expanding the clinical spectrum of MTTF mutations.
Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A. Barcia G, et al. Among authors: bonnefont jp. Mol Genet Metab Rep. 2019 Aug 13;21:100501. doi: 10.1016/j.ymgmr.2019.100501. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31463198 Free PMC article.
Improving post-natal detection of mitochondrial DNA mutations.
Barcia G, Assouline Z, Magen M, Pennisi A, Rötig A, Munnich A, Bonnefont JP, Steffann J. Barcia G, et al. Among authors: bonnefont jp. Expert Rev Mol Diagn. 2020 Oct;20(10):1003-1008. doi: 10.1080/14737159.2020.1820326. Epub 2020 Sep 20. Expert Rev Mol Diagn. 2020. PMID: 32902337
Defects in activation and transport of fatty acids.
Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray JM, Bonnefont JP. Brivet M, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1999 Jun;22(4):428-41. doi: 10.1023/a:1005552106301. J Inherit Metab Dis. 1999. PMID: 10407779 Review.
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.
Hyperketotic states due to inherited defects of ketolysis.
Saudubray JM, Specola N, Middleton B, Lombes A, Bonnefont JP, Jakobs C, Vassault A, Charpentier C, Day R. Saudubray JM, et al. Among authors: bonnefont jp. Enzyme. 1987;38(1-4):80-90. doi: 10.1159/000469194. Enzyme. 1987. PMID: 2894307 Review.
227 results