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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: lecaignec c. J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11. J Med Genet. 2023. PMID: 36368868
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H. Pearlman A, et al. Am J Hum Genet. 2010 Dec 10;87(6):898-904. doi: 10.1016/j.ajhg.2010.11.003. Am J Hum Genet. 2010. PMID: 21129722 Free PMC article.
Parallel derivation of isogenic human primed and naive induced pluripotent stem cells.
Kilens S, Meistermann D, Moreno D, Chariau C, Gaignerie A, Reignier A, Lelièvre Y, Casanova M, Vallot C, Nedellec S, Flippe L, Firmin J, Song J, Charpentier E, Lammers J, Donnart A, Marec N, Deb W, Bihouée A, Le Caignec C, Pecqueur C, Redon R, Barrière P, Bourdon J, Pasque V, Soumillon M, Mikkelsen TS, Rougeulle C, Fréour T, David L; Milieu Intérieur Consortium. Kilens S, et al. Nat Commun. 2018 Jan 24;9(1):360. doi: 10.1038/s41467-017-02107-w. Nat Commun. 2018. PMID: 29367672 Free PMC article.
Single-cell chromosomal imbalances detection by array CGH.
Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch JR. Le Caignec C, et al. Nucleic Acids Res. 2006 May 12;34(9):e68. doi: 10.1093/nar/gkl336. Nucleic Acids Res. 2006. PMID: 16698960 Free PMC article.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B. Szenker-Ravi E, et al. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Nature. 2018. PMID: 29769720
142 results