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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2009 1
2010 3
2011 1
2012 1
2013 1
2014 2
2015 3
2016 2
2017 1
2018 5
2019 13
2020 5
2021 7
2022 3
2023 1
2024 3

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48 results

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Page 1
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: condroyer c. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. PMID: 38405922 Free PMC article. Preprint.
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: condroyer c. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9.
Ben Yacoub T, Letellier C, Wohlschlegel J, Condroyer C, Slembrouck-Brec A, Goureau O, Zeitz C, Audo I. Ben Yacoub T, et al. Among authors: condroyer c. Stem Cell Res. 2023 Sep;71:103166. doi: 10.1016/j.scr.2023.103166. Epub 2023 Jul 14. Stem Cell Res. 2023. PMID: 37473460 Free article.
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: condroyer c. Int J Mol Sci. 2022 Jun 28;23(13):7189. doi: 10.3390/ijms23137189. Int J Mol Sci. 2022. PMID: 35806195 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: condroyer c. Int J Mol Sci. 2021 Jul 23;22(15):7875. doi: 10.3390/ijms22157875. Int J Mol Sci. 2021. PMID: 34360642 Free PMC article.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Among authors: condroyer c. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
48 results