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Page 1
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, Hannequin P, Paternoster G, Baer S, Cabrol C, Weber E, Godfrin G, Lenoir M, Lacombe D, Collet C, Van Maldergem L. Brischoux-Boucher E, et al. Among authors: collet c. Clin Genet. 2018 Oct;94(3-4):373-380. doi: 10.1111/cge.13409. Epub 2018 Jul 23. Clin Genet. 2018. PMID: 29926465
Bilambdoid and sagittal synostosis: Report of 39 cases.
Chivoret N, Arnaud E, Giraudat K, O'Brien F, Pamphile L, Meyer P, Renier D, Collet C, Di Rocco F. Chivoret N, et al. Among authors: collet c. Surg Neurol Int. 2018 Oct 11;9:206. doi: 10.4103/sni.sni_454_17. eCollection 2018. Surg Neurol Int. 2018. PMID: 30386676 Free PMC article.
Genetic bases of craniosynostoses: An update.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M. Armand T, et al. Among authors: collet c. Neurochirurgie. 2019 Nov;65(5):196-201. doi: 10.1016/j.neuchi.2019.10.003. Epub 2019 Oct 9. Neurochirurgie. 2019. PMID: 31605683 Review.
Clinical interest of molecular study in cases of isolated midline craniosynostosis.
Di Rocco F, Rossi M, Verlut I, Szathmari A, Beuriat PA, Chatron N, Chauvel-Picard J, Mottolese C, Monin P, Vinchon M, Guernouche S, Collet C. Di Rocco F, et al. Among authors: collet c. Eur J Hum Genet. 2023 Jun;31(6):621-628. doi: 10.1038/s41431-023-01295-y. Epub 2023 Feb 3. Eur J Hum Genet. 2023. PMID: 36732661 Free PMC article.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: collet c. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
656 results