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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: mejecase c. 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.
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. PLoS One. 2016 Dec 15;11(12):e0168271. doi: 10.1371/journal.pone.0168271. eCollection 2016. PLoS One. 2016. PMID: 27977773 Free PMC article.
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: mejecase c. Int J Mol Sci. 2018 Jul 27;19(8):2196. doi: 10.3390/ijms19082196. Int J Mol Sci. 2018. PMID: 30060493 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: mejecase c. JAMA Ophthalmol. 2019 Jun 1;137(6):669-679. doi: 10.1001/jamaophthalmol.2018.6367. JAMA Ophthalmol. 2019. PMID: 30998820 Free PMC article.
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother.
Wohlschlegel J, Letellier C, Liu B, Méjécase C, Slembrouck-Brec A, Condroyer C, Michiels C, Sahel JA, Reichman S, Zeitz C, Goureau O, Audo I. Wohlschlegel J, et al. Among authors: mejecase c. Stem Cell Res. 2019 Dec;41:101625. doi: 10.1016/j.scr.2019.101625. Epub 2019 Nov 5. Stem Cell Res. 2019. PMID: 31731182 Free article.
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Smirnov VM, et al. Among authors: mejecase c. JAMA Ophthalmol. 2021 Mar 1;139(3):278-291. doi: 10.1001/jamaophthalmol.2020.6089. JAMA Ophthalmol. 2021. PMID: 33507216 Free PMC article.
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