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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: jullien l. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.
Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P. Touzot F, et al. Among authors: jullien l. Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29. Blood Adv. 2016. PMID: 29296694 Free PMC article.
A series of caged fluorophores for calibrating light intensity.
Mandal M, Tehrani HS, Mai Q, Simon E, Plamont MA, Rampon C, Vriz S, Aujard I, Le Saux T, Jullien L. Mandal M, et al. Among authors: jullien l. Chem Sci. 2023 Nov 10;14(47):13799-13811. doi: 10.1039/d3sc04183b. eCollection 2023 Dec 6. Chem Sci. 2023. PMID: 38075640 Free PMC article.
Fluorescence to measure light intensity.
Lahlou A, Tehrani HS, Coghill I, Shpinov Y, Mandal M, Plamont MA, Aujard I, Niu Y, Nedbal L, Lazár D, Mahou P, Supatto W, Beaurepaire E, Eisenmann I, Desprat N, Croquette V, Jeanneret R, Le Saux T, Jullien L. Lahlou A, et al. Among authors: jullien l. Nat Methods. 2023 Dec;20(12):1930-1938. doi: 10.1038/s41592-023-02063-y. Epub 2023 Nov 23. Nat Methods. 2023. PMID: 37996751 Free PMC article.
114 results