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Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Bouchet C, Steffann J, Corcos J, Monnot S, Paquis V, Rötig A, Lebon S, Levy P, Royer G, Giurgea I, Gigarel N, Benachi A, Dumez Y, Munnich A, Bonnefont JP. Bouchet C, et al. Among authors: lebon s. J Med Genet. 2006 Oct;43(10):788-92. doi: 10.1136/jmg.2005.034140. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690729 Free PMC article.
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Among authors: lebon s. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. Among authors: lebon s. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
De Lonlay P, Mugnier C, Sanlaville D, Chantrel-Groussard K, Bénit P, Lebon S, Chrétien D, Kadhom N, Saker S, Gyapay G, Romana S, Weissenbach J, Munnich A, Rustin P, Rötig A. De Lonlay P, et al. Among authors: lebon s. Hum Mol Genet. 2002 Dec 15;11(26):3273-81. doi: 10.1093/hmg/11.26.3273. Hum Mol Genet. 2002. PMID: 12471054
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: lebon s. 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.
106 results