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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.
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. 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.
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. 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.
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. Arch Ophthalmol. 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162. Arch Ophthalmol. 2010. PMID: 20697005
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. Hum Mutat. 2010 May;31(5):E1406-35. doi: 10.1002/humu.21249. Hum Mutat. 2010. PMID: 20333770
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. 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.
Effects of Ca2+, Glu and GABA on hBest1 and composite hBest1/POPC surface films.
Andreeva TD, Petrova SD, Mladenova K, Moskova-Doumanova V, Topouzova-Hristova T, Petseva Y, Mladenov N, Balashev K, Lalchev Z, Doumanov JA. Andreeva TD, et al. Among authors: moskova doumanova v. Colloids Surf B Biointerfaces. 2018 Jan 1;161:192-199. doi: 10.1016/j.colsurfb.2017.10.051. Epub 2017 Oct 18. Colloids Surf B Biointerfaces. 2018. PMID: 29080503
Miscibility of hBest1 and sphingomyelin in surface films - A prerequisite for interaction with membrane domains.
Mladenov N, Petrova SD, Mladenova K, Bozhinova D, Moskova-Doumanova V, Topouzova-Hristova T, Videv P, Veleva R, Kostadinova A, Staneva G, Andreeva TD, Doumanov JA. Mladenov N, et al. Among authors: moskova doumanova v. Colloids Surf B Biointerfaces. 2020 May;189:110893. doi: 10.1016/j.colsurfb.2020.110893. Epub 2020 Feb 21. Colloids Surf B Biointerfaces. 2020. PMID: 32113084
24 results