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CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: demontant v. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.
MERTK mutation update in inherited retinal diseases.
Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C. Audo I, et al. Among authors: demontant v. Hum Mutat. 2018 Jul;39(7):887-913. doi: 10.1002/humu.23431. Epub 2018 May 23. Hum Mutat. 2018. PMID: 29659094 Free article. Review.
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M, Mohand-Saïd S, Dhaenens CM, Boyard F, Démontant V, Andrieu C, Antonio A, Condroyer C, Foussard M, Méjécase C, Eandi CM, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Among authors: demontant v. Int J Mol Sci. 2018 Jul 27;19(8):2196. doi: 10.3390/ijms19082196. Int J Mol Sci. 2018. PMID: 30060493 Free PMC article.
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: demontant v. 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: demontant v. 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: demontant v. 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.
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S, Nassisi M, Bujakowska KM, Méjécase C, Condroyer C, Antonio A, Foussard M, Démontant V, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Khateb S, et al. Among authors: demontant v. JAMA Ophthalmol. 2019 Jun 1;137(6):669-679. doi: 10.1001/jamaophthalmol.2018.6367. JAMA Ophthalmol. 2019. PMID: 30998820 Free PMC article.
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: demontant v. Int J Mol Sci. 2019 Sep 30;20(19):4854. doi: 10.3390/ijms20194854. Int J Mol Sci. 2019. PMID: 31574917 Free PMC article.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Zeitz C, Méjécase C, Michiels C, Condroyer C, Wohlschlegel J, Foussard M, Antonio A, Démontant V, Emmenegger L, Schalk A, Neuillé M, Orhan E, Augustin S, Bonnet C, Estivalet A, Blond F, Blanchard S, Andrieu C, Chantot-Bastaraud S, Léveillard T, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: demontant v. Int J Mol Sci. 2021 Jul 23;22(15):7875. doi: 10.3390/ijms22157875. Int J Mol Sci. 2021. PMID: 34360642 Free PMC article.
40 results