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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Rivière JB, Attié-Bitach T, Garcia-Verdugo JM, Faivre L, Mégarbané A, Nachury MV. Thauvin-Robinet C, et al. Nat Genet. 2014 Aug;46(8):905-11. doi: 10.1038/ng.3031. Epub 2014 Jul 6. Nat Genet. 2014. PMID: 24997988 Free PMC article.
Orthogonal functionalisation of upconverting NaYF4 nanocrystals.
Voliani V, González-Béjar M, Herranz-Pérez V, Duran-Moreno M, Signore G, Garcia-Verdugo JM, Pérez-Prieto J. Voliani V, et al. Chemistry. 2013 Sep 27;19(40):13538-46. doi: 10.1002/chem.201301353. Epub 2013 Aug 13. Chemistry. 2013. PMID: 23943097
Long-term hydrocephalus alters the cytoarchitecture of the adult subventricular zone.
Campos-Ordoñez T, Herranz-Pérez V, Chaichana KL, Rincon-Torroella J, Rigamonti D, García-Verdugo JM, Quiñones-Hinojosa A, Gonzalez-Perez O. Campos-Ordoñez T, et al. Exp Neurol. 2014 Nov;261:236-44. doi: 10.1016/j.expneurol.2014.05.011. Epub 2014 May 21. Exp Neurol. 2014. PMID: 24858805 Free PMC article.
47 results