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Page 1
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, Kern I, Girardin E, Hertz-Pannier L, de Lonlay P, Rötig A, Rustin P, Munnich A. Lebon S, et al. Among authors: giurgea i. J Med Genet. 2003 Dec;40(12):896-9. doi: 10.1136/jmg.40.12.896. J Med Genet. 2003. PMID: 14684687 Free PMC article.
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P. Bénit P, et al. Among authors: giurgea i. J Med Genet. 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316. J Med Genet. 2004. PMID: 14729820 Free PMC article.
Respiratory chain defects may present only with hypoglycemia.
Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. Among authors: giurgea i. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Among authors: giurgea i. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.
TCF4 deletions in Pitt-Hopkins Syndrome.
Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A. Giurgea I, et al. Hum Mutat. 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. Hum Mutat. 2008. PMID: 18781613
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: giurgea i. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
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