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WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C. Solaguren-Beascoa M, et al. Among authors: lonjou c. Clin Genet. 2021 Feb;99(2):298-302. doi: 10.1111/cge.13872. Epub 2020 Nov 9. Clin Genet. 2021. PMID: 33124039 Free PMC article.
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA. Bujakowska KM, et al. Among authors: lonjou c. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168386 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: lonjou c. 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.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Girard E, et al. Among authors: lonjou c. Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13. Int J Cancer. 2019. PMID: 30303537 Free PMC article.
Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia.
Ségurel L, Austerlitz F, Toupance B, Gautier M, Kelley JL, Pasquet P, Lonjou C, Georges M, Voisin S, Cruaud C, Couloux A, Hegay T, Aldashev A, Vitalis R, Heyer E. Ségurel L, et al. Among authors: lonjou c. Eur J Hum Genet. 2013 Oct;21(10):1146-51. doi: 10.1038/ejhg.2012.295. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340510 Free PMC article.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Lonjou C, Eon-Marchais S, Truong T, Dondon MG, Karimi M, Jiao Y, Damiola F, Barjhoux L, Le Gal D, Beauvallet J, Mebirouk N, Cavaciuti E, Chiesa J, Floquet A, Audebert-Bellanger S, Giraud S, Frebourg T, Limacher JM, Gladieff L, Mortemousque I, Dreyfus H, Lejeune-Dumoulin S, Lasset C, Venat-Bouvet L, Bignon YJ, Pujol P, Maugard CM, Luporsi E, Bonadona V, Noguès C, Berthet P, Delnatte C, Gesta P, Lortholary A, Faivre L, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Mazoyer S, Monraz LC, Kondratova M, Kuperstein I, Guénel P, Barillot E, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Lonjou C, et al. Int J Cancer. 2021 Apr 15;148(8):1895-1909. doi: 10.1002/ijc.33457. Epub 2021 Jan 9. Int J Cancer. 2021. PMID: 33368296 Free PMC article.
29 results