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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. Among authors: le caignec c. Nature. 2018 May;557(7706):564-569. doi: 10.1038/s41586-018-0118-y. Epub 2018 May 16. Nature. 2018. PMID: 29769720
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: le caignec c. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
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. 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
Mandibular dysostosis without microphthalmia caused by OTX2 deletion.
Latypova X, Bordereau S, Bleriot A, Pichon O, Poulain D, Briand A, Le Caignec C, Isidor B. Latypova X, et al. Among authors: le caignec c. Am J Med Genet A. 2016 Sep;170(9):2466-70. doi: 10.1002/ajmg.a.37837. Epub 2016 Jul 5. Am J Med Genet A. 2016. PMID: 27378064
Author Correction: 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. Among authors: le caignec c. Nature. 2018 Sep;561(7722):E7. doi: 10.1038/s41586-018-0296-7. Nature. 2018. PMID: 29977062
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Grange LJ, et al. Among authors: le caignec c. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
Chromosome instability is common in human cleavage-stage embryos.
Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F, Fryns JP, Verbeke G, D'Hooghe T, Moreau Y, Vermeesch JR. Vanneste E, et al. Among authors: le caignec c. Nat Med. 2009 May;15(5):577-83. doi: 10.1038/nm.1924. Epub 2009 Apr 26. Nat Med. 2009. PMID: 19396175 Free article.
161 results