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Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity.
Jaillard C, Mouret A, Niepon ML, Clérin E, Yang Y, Lee-Rivera I, Aït-Ali N, Millet-Puel G, Cronin T, Sedmak T, Raffelsberger W, Kinzel B, Trembleau A, Poch O, Bennett J, Wolfrum U, Lledo PM, Sahel JA, Léveillard T. Jaillard C, et al. Among authors: poch o. Hum Mol Genet. 2012 May 15;21(10):2298-311. doi: 10.1093/hmg/dds050. Epub 2012 Feb 15. Hum Mol Genet. 2012. PMID: 22343139 Free PMC article.
The thioredoxin-like protein rod-derived cone viability factor (RdCVFL) interacts with TAU and inhibits its phosphorylation in the retina.
Fridlich R, Delalande F, Jaillard C, Lu J, Poidevin L, Cronin T, Perrocheau L, Millet-Puel G, Niepon ML, Poch O, Holmgren A, Van Dorsselaer A, Sahel JA, Léveillard T. Fridlich R, et al. Among authors: poch o. Mol Cell Proteomics. 2009 Jun;8(6):1206-18. doi: 10.1074/mcp.M800406-MCP200. Epub 2009 Mar 11. Mol Cell Proteomics. 2009. PMID: 19279044 Free PMC article.
The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.
Reichman S, Kalathur RK, Lambard S, Aït-Ali N, Yang Y, Lardenois A, Ripp R, Poch O, Zack DJ, Sahel JA, Léveillard T. Reichman S, et al. Among authors: poch o. Hum Mol Genet. 2010 Jan 15;19(2):250-61. doi: 10.1093/hmg/ddp484. Epub 2009 Oct 20. Hum Mol Genet. 2010. PMID: 19843539 Free PMC article.
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. Audo I, et al. Among authors: poch o. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026677
Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial Cells.
Kole C, Berdugo N, Da Silva C, Aït-Ali N, Millet-Puel G, Pagan D, Blond F, Poidevin L, Ripp R, Fontaine V, Wincker P, Zack DJ, Sahel JA, Poch O, Léveillard T. Kole C, et al. Among authors: poch o. PLoS One. 2016 Mar 17;11(3):e0150758. doi: 10.1371/journal.pone.0150758. eCollection 2016. PLoS One. 2016. PMID: 26985665 Free PMC article.
Identification and characterization of rod-derived cone viability factor.
Léveillard T, Mohand-Saïd S, Lorentz O, Hicks D, Fintz AC, Clérin E, Simonutti M, Forster V, Cavusoglu N, Chalmel F, Dollé P, Poch O, Lambrou G, Sahel JA. Léveillard T, et al. Among authors: poch o. Nat Genet. 2004 Jul;36(7):755-9. doi: 10.1038/ng1386. Epub 2004 Jun 27. Nat Genet. 2004. PMID: 15220920 Free article.
Transcriptomic analysis of human retinal detachment reveals both inflammatory response and photoreceptor death.
Delyfer MN, Raffelsberger W, Mercier D, Korobelnik JF, Gaudric A, Charteris DG, Tadayoni R, Metge F, Caputo G, Barale PO, Ripp R, Muller JD, Poch O, Sahel JA, Léveillard T. Delyfer MN, et al. Among authors: poch o. PLoS One. 2011;6(12):e28791. doi: 10.1371/journal.pone.0028791. Epub 2011 Dec 9. PLoS One. 2011. PMID: 22174898 Free PMC article.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: poch o. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Am J Hum Genet. 2012. PMID: 22325361 Free PMC article.
199 results