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Oxford Craniofacial Unit Scientific Publications 2000-2004


Twigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM & Wilkie AOM* (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 101:8652-8657

Rannan-Eliya SV, Taylor IB, de Heer IM, van den Ouweland AMW, Wall SA & Wilkie AOM* (2004). Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet 115:200-207

Mohammed SN, Swan MC, Wall SA & Wilkie AOM (2004). Monozygotic twins discordant for frontonasal malformation. Am J Med Genet 130A:384-388


Johnson D, Kan S-h, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H & Wilkie AOM* (2003). Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 72:984-997

Kan S-h, Johnson D, Giele H & Wilkie AOM (2003). An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet 121A:69-74

Garcia-Miñaur S, Mavrogiannis LA, Rannan-Eliya SV, Hendry MA, Liston WA, Porteous MEM & Wilkie AOM* (2003). Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet 11:892-895

Johnson D. A comprehensive screen of genes implicated in craniosynostosis. Ann R Coll Surg Engl. (2003) 85:371-377


Kan S-h, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SRF, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M & Wilkie AOM* (2002). Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 70:472-486

McIntyre JD, Rannan-Eliya SV, Wall SA (2002). Familial external angular dermoid: evidence for a genetic link? J Craniofac Surg 13:311-4

Nyabadza, M. Das, S Anaesthesia and the Internet-Editorial. British Journal of Anaesthesia, 2002; 88(3):334-337


Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM & Wilkie AOM* (2001). Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nature Genet 27:17-18

Elanko N, Sibbring JS, Metcalfe KA, Clayton-Smith J, Donnai D, Temple IK, Wall SA & Wilkie AOM* (2001). A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat 18:535-541


Johnson D, Iseki S, Wilkie AOM & Morriss-Kay GM (2000). Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 91:341-345

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AOM & Jabs EW (2000). Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 66:768-777

Wilkie AOM*, Tang Z, Elanko N, Walsh S, Twigg SRF, Hurst JA, Wall SA, Chrzanowska KH & Maxson RE Jr (2000). Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nature Genet 24:387-390

Johnson D, Wall SA, Mann S & Wilkie AOM* (2000). A novel mutation, Ala315Ser, in FGFR2: gene-environment interaction leading to craniosynostosis? Eur J Hum Genet 8:571-577

Blair EM, Walsh S, Oldridge M, Wall SA & Wilkie AOM (2000). Newly recognised craniosynostosis syndrome that does not map to known disease loci. Am J Med Genet 95:4-9

Johnson D, Wilkie AOM (2000). Pfeiffer syndrome is not caused by haploinsufficiency of FGFR2. J Craniofac Genet Dev Biol 20:109-111