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Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4.
Eur J Hum Genet. 2015.
PMID: 25649378
Free PMC article.
Lamin a truncation in Hutchinson-Gilford progeria.
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N.
De Sandre-Giovannoli A, et al. Among authors: navarro c.
Science. 2003 Jun 27;300(5628):2055. doi: 10.1126/science.1084125. Epub 2003 Apr 17.
Science. 2003.
PMID: 12702809
No abstract available.
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N.
Navarro CL, et al.
Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18.
Hum Mol Genet. 2004.
PMID: 15317753
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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N.
Navarro CL, et al.
Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20.
Hum Mol Genet. 2005.
PMID: 15843403
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Molecular bases of progeroid syndromes.
Navarro CL, Cau P, Lévy N.
Navarro CL, et al.
Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R151-61. doi: 10.1093/hmg/ddl214.
Hum Mol Genet. 2006.
PMID: 16987878
Review.
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HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.
Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A, Lévy N.
Pereira S, et al. Among authors: navarro c.
Mech Ageing Dev. 2008 Jul-Aug;129(7-8):449-59. doi: 10.1016/j.mad.2008.04.003. Epub 2008 Apr 12.
Mech Ageing Dev. 2008.
PMID: 18513784
Review.
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[A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects].
Navarro CL, Poitelon Y, Lévy N.
Navarro CL, et al.
Med Sci (Paris). 2008 Oct;24(10):833-40. doi: 10.1051/medsci/20082410833.
Med Sci (Paris). 2008.
PMID: 18950579
Free article.
Review.
French.
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LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
Gaudy-Marqueste C, Boyer A, Navarro C, Rouzier C, Harley JR, Weiller PJ, Grob JJ, Levy N, De Sandre-Giovannoli A.
Gaudy-Marqueste C, et al. Among authors: navarro c.
Genet Test Mol Biomarkers. 2009 Oct;13(5):635-9. doi: 10.1089/gtmb.2009.0021.
Genet Test Mol Biomarkers. 2009.
PMID: 19645629
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.
Ben Yaou R, et al. Among authors: navarro c.
Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.
Eur J Hum Genet. 2011.
PMID: 21267004
Free PMC article.
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A conserved splicing mechanism of the LMNA gene controls premature aging.
Lopez-Mejia IC, Vautrot V, De Toledo M, Behm-Ansmant I, Bourgeois CF, Navarro CL, Osorio FG, Freije JM, Stévenin J, De Sandre-Giovannoli A, Lopez-Otin C, Lévy N, Branlant C, Tazi J.
Lopez-Mejia IC, et al. Among authors: navarro cl.
Hum Mol Genet. 2011 Dec 1;20(23):4540-55. doi: 10.1093/hmg/ddr385. Epub 2011 Aug 29.
Hum Mol Genet. 2011.
PMID: 21875900
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