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

Year Number of Results
1987 1
1990 1
1992 1
1994 2
1995 3
1996 1
1997 2
1998 2
1999 3
2000 5
2001 4
2002 5
2003 2
2004 2
2005 5
2006 2
2007 3
2008 2
2009 7
2010 8
2011 4
2012 5
2013 7
2014 5
2015 4
2016 7
2017 7
2018 8
2019 6
2020 4
2021 2
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102 results
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Page 1
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: jardel c. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: jardel c. J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11. J Med Genet. 2013. PMID: 23847141 Free PMC article.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. Desai R, et al. Among authors: jardel c. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094. Brain. 2017. PMID: 28549128 Free PMC article.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: jardel c. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Rucheton B, Jardel C, Filaut S, Amador MDM, Maisonobe T, Serre I, Romero NB, Leonard-Louis S, Haraux F, Lombès A. Rucheton B, et al. Among authors: jardel c. Mitochondrion. 2020 Nov;55:64-77. doi: 10.1016/j.mito.2020.08.004. Epub 2020 Aug 26. Mitochondrion. 2020. PMID: 32858252
Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.
Brisset M, Béhin A, Pottier C, Jardel C, Sharshar T, Mochel F, Mallard F, Slama A, Lombès A, Eymard B, Laforêt P. Brisset M, et al. Among authors: jardel c. Rev Neurol (Paris). 2019 Oct;175(9):564-567. doi: 10.1016/j.neurol.2018.12.004. Epub 2019 May 1. Rev Neurol (Paris). 2019. PMID: 31053354
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N. Decoux-Poullot AG, et al. Among authors: jardel c. Ann Endocrinol (Paris). 2020 Jun;81(2-3):68-77. doi: 10.1016/j.ando.2020.04.007. Epub 2020 Apr 28. Ann Endocrinol (Paris). 2020. PMID: 32409007
[Pathophysiology of human mitochondrial diseases].
Lombès A, Auré K, Jardel C. Lombès A, et al. Among authors: jardel c. Biol Aujourdhui. 2015;209(2):125-32. doi: 10.1051/jbio/2015014. Epub 2015 Oct 29. Biol Aujourdhui. 2015. PMID: 26514381 Review. French.
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.
González-Del Angel A, Bisciglia M, Vargas-Cañas S, Fernandez-Valverde F, Kazakova E, Escobar RE, Romero NB, Jardel C, Rucheton B, Stojkovic T, Malfatti E. González-Del Angel A, et al. Among authors: jardel c. Front Neurol. 2019 Oct 4;10:1049. doi: 10.3389/fneur.2019.01049. eCollection 2019. Front Neurol. 2019. PMID: 31636600 Free PMC article.
102 results
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