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Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Among authors: lancelot me. Int J Mol Sci. 2022 Jun 28;23(13):7189. doi: 10.3390/ijms23137189. Int J Mol Sci. 2022. PMID: 35806195 Free PMC article.
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. Bujakowska K, et al. Among authors: lancelot me. Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22065545 Free PMC article. Review.
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: lancelot me. Hum Mutat. 2010 May;31(5):E1406-35. doi: 10.1002/humu.21249. Hum Mutat. 2010. PMID: 20333770
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Mohand-Saïd S, Sahel JA, Audo I, Zeitz C. El Shamieh S, et al. Among authors: lancelot me. Biomed Res Int. 2015;2015:485624. doi: 10.1155/2015/485624. Epub 2015 Jan 6. Biomed Res Int. 2015. PMID: 25692139 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: lancelot me. Arch Ophthalmol. 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162. Arch Ophthalmol. 2010. PMID: 20697005
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: lancelot me. 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
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