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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. Among authors: franco b. 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.
Identification of the gene for oral-facial-digital type I syndrome.
Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Ferrante MI, et al. Among authors: franco b. Am J Hum Genet. 2001 Mar;68(3):569-76. doi: 10.1086/318802. Epub 2001 Feb 13. Am J Hum Genet. 2001. PMID: 11179005 Free PMC article.
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. De Falco F, et al. Among authors: franco b. Am J Med Genet A. 2003 Jul 15;120A(2):222-8. doi: 10.1002/ajmg.a.10265. Am J Med Genet A. 2003. PMID: 12833403 Review.
411 results