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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E, Mohand-Saïd S, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Sahel JA, Zeitz C, Audo I. Boulanger-Scemama E, et al. Among authors: letexier m. Int J Mol Sci. 2019 Sep 30;20(19):4854. doi: 10.3390/ijms20194854. Int J Mol Sci. 2019. PMID: 31574917 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: letexier m. 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.
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: letexier m. Orphanet J Rare Dis. 2012 Jan 25;7:8. doi: 10.1186/1750-1172-7-8. Orphanet J Rare Dis. 2012. PMID: 22277662 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: letexier m. 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
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. El Shamieh S, et al. Among authors: letexier m. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680887 Free PMC article.
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: letexier m. Biomed Res Int. 2015;2015:485624. doi: 10.1155/2015/485624. Epub 2015 Jan 6. Biomed Res Int. 2015. PMID: 25692139 Free PMC article.
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Boulanger-Scemama E, et al. Among authors: letexier m. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3. Orphanet J Rare Dis. 2015. PMID: 26103963 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: letexier m. PLoS One. 2016 Dec 15;11(12):e0168271. doi: 10.1371/journal.pone.0168271. eCollection 2016. PLoS One. 2016. PMID: 27977773 Free PMC article.
23 results