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Page 1
Genotyping microarray for CSNB-associated genes.
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Zeitz C, et al. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578023 Free article.
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: zeitz c. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896113 Free PMC article.
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: zeitz c. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17. Invest Ophthalmol Vis Sci. 2010. PMID: 20164459 Free PMC article.
EYS is a major gene for rod-cone dystrophies in France.
Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: zeitz c. Hum Mutat. 2010 May;31(5):E1406-35. doi: 10.1002/humu.21249. Hum Mutat. 2010. PMID: 20333770
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: zeitz c. Arch Ophthalmol. 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162. Arch Ophthalmol. 2010. PMID: 20697005
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF. Riazuddin SA, et al. Among authors: zeitz c. Am J Hum Genet. 2010 Oct 8;87(4):523-31. doi: 10.1016/j.ajhg.2010.08.013. Epub 2010 Sep 16. Am J Hum Genet. 2010. PMID: 20850105 Free PMC article.
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, Abd El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antiñolo G. Barragán I, et al. Among authors: zeitz c. Hum Mutat. 2010 Nov;31(11):E1772-800. doi: 10.1002/humu.21334. Hum Mutat. 2010. PMID: 21069908 Free PMC article.
252 results