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Page 1
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.
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium; Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I. Zeitz C, et al. Among authors: poch o. Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246293 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
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.
An unusual retinal phenotype associated with a novel mutation in RHO.
Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C. Audo I, et al. Among authors: poch o. Arch Ophthalmol. 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162. Arch Ophthalmol. 2010. PMID: 20697005
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H. Stoetzel C, et al. Among authors: poch o. Am J Hum Genet. 2007 Jan;80(1):1-11. doi: 10.1086/510256. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160889 Free PMC article.
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C. Méjécase C, et al. Among authors: poch o. PLoS One. 2016 Dec 15;11(12):e0168271. doi: 10.1371/journal.pone.0168271. eCollection 2016. PLoS One. 2016. PMID: 27977773 Free PMC article.
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.
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H. Laurier V, et al. Among authors: poch o. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823392
199 results