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

Year Number of Results
2002 5
2003 5
2004 3
2006 5
2007 1
2008 5
2009 3
2010 3
2011 3
2012 7
2013 6
2014 4
2015 5
2016 3
2017 1
2018 5
2019 1
2020 1
2024 0

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57 results

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Page 1
Mitochondrial dysfunction and lipid homeostasis.
Vamecq J, Dessein AF, Fontaine M, Briand G, Porchet N, Latruffe N, Andreolotti P, Cherkaoui-Malki M. Vamecq J, et al. Among authors: porchet n. Curr Drug Metab. 2012 Dec;13(10):1388-400. doi: 10.2174/138920012803762792. Curr Drug Metab. 2012. PMID: 22978394 Review.
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J. Joncquel-Chevalier Curt M, et al. Among authors: porchet n. Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2. Biochimie. 2015. PMID: 26542286 Review.
Description of 22 new alpha-1 antitrypsin genetic variants.
Renoux C, Odou MF, Tosato G, Teoli J, Abbou N, Lombard C, Zerimech F, Porchet N, Chapuis Cellier C, Balduyck M, Joly P. Renoux C, et al. Among authors: porchet n. Orphanet J Rare Dis. 2018 Sep 17;13(1):161. doi: 10.1186/s13023-018-0897-0. Orphanet J Rare Dis. 2018. PMID: 30223862 Free PMC article.
Hyperparathyroidism complicating CYP 24A1 mutations.
Loyer C, Leroy C, Molin A, Odou MF, Huglo D, Lion G, Ernst O, Hoffmann M, Porchet N, Carnaille B, Pattou F, Kottler ML, Vantyghem MC. Loyer C, et al. Among authors: porchet n. Ann Endocrinol (Paris). 2016 Oct;77(5):615-619. doi: 10.1016/j.ando.2016.03.002. Epub 2016 Jul 1. Ann Endocrinol (Paris). 2016. PMID: 27378451
[MUC1 (EMA): A key molecule of carcinogenesis?].
Leroy X, Buisine MP, Leteurtre E, Aubert S, Buob D, Porchet N, Copin MC. Leroy X, et al. Among authors: porchet n. Ann Pathol. 2006 Sep;26(4):257-66. doi: 10.1016/s0242-6498(06)70718-0. Ann Pathol. 2006. PMID: 17128152 Review. French.
Galectin-3 modulates epithelial cell adaptation to stress at the ER-mitochondria interface.
Coppin L, Jannin A, Ait Yahya E, Thuillier C, Villenet C, Tardivel M, Bongiovanni A, Gaston C, de Beco S, Barois N, van Seuningen I, Durand E, Bonnefond A, Vienne JC, Vamecq J, Figeac M, Vincent A, Delacour D, Porchet N, Pigny P. Coppin L, et al. Among authors: porchet n. Cell Death Dis. 2020 May 12;11(5):360. doi: 10.1038/s41419-020-2556-3. Cell Death Dis. 2020. PMID: 32398681 Free PMC article.
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F. Vanlerberghe C, et al. Among authors: porchet n. Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552424 Free PMC article.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J. Gordon CT, et al. Among authors: porchet n. J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173. J Med Genet. 2012. PMID: 23188108
57 results