22 results for author:"Wilkie A.O.M." in Literature citations
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| Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Twigg S.R.F., Versnel S.L., Nuernberg G., Lees M.M., Bhat M., Hammond P., Hennekam R.C.M., Hoogeboom A.J., Hurst J.A., Johnson D. et al. Am. J. Hum. Genet. 84:698-705(2009) · UniProtKB (1) |
| A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Lehmann K., Seemann P., Silan F., Goecke T.O., Irgang S., Kjaer K.W., Kjaergaard S., Mahoney M.J., Morlot S., Reissner C. et al. Am. J. Hum. Genet. 81:388-396(2007) · UniProtKB (1) |
| RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Jenkins D., Seelow D., Jehee F.S., Perlyn C.A., Alonso L.G., Bueno D.F., Donnai D., Josifiova D., Mathijssen I.M.J., Morton J.E.V. et al. Am. J. Hum. Genet. 80:1162-1170(2007) · UniProtKB (1) |
| Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Twigg S.R.F., Kan R., Babbs C., Bochukova E.G., Robertson S.P., Wall S.A., Morriss-Kay G.M., Wilkie A.O.M. Proc. Natl. Acad. Sci. U.S.A. 101:8652-8657(2004) · UniProtKB (1) · Mapped (2) |
| Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Garcia-Minaur S., Mavrogiannis L.A., Rannan-Eliya S.V., Hendry M.A., Liston W.A., Porteous M.E.M., Wilkie A.O.M. Eur. J. Hum. Genet. 11:892-895(2003) · UniProtKB (1) |
| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Robertson S.P., Twigg S.R.F., Sutherland-Smith A.J., Biancalana V., Gorlin R.J., Horn D., Kenwrick S.J., Kim C.A., Morava E., Newbury-Ecob R. et al. |
| Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Kan S.-H., Elanko N., Johnson D., Cornejo-Roldan L.R., Cook J., Reich E.W., Tomkins S., Verloes A., Twigg S.R.F., Rannan-Eliya S. et al. Am. J. Hum. Genet. 70:472-486(2002) · UniProtKB (1) · Mapped (15) |
| Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Mavrogiannis L.A., Antonopoulou I., Baxova A., Kutilek S., Kim C.A., Sugayama S.M., Salamanca A., Wall S.A., Morriss-Kay G.M., Wilkie A.O.M. Nat. Genet. 27:17-18(2001) · UniProtKB (1) |
| Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Schwabe G.C., Tinschert S., Buschow C., Meinecke P., Wolff G., Gillessen-Kaesbach G., Oldridge M., Wilkie A.O.M., Koemec R., Mundlos S. Am. J. Hum. Genet. 67:822-831(2000) · UniProtKB (1) |
| A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? Johnson D., Wall S.A., Mann S., Wilkie A.O.M. Eur. J. Hum. Genet. 8:571-577(2000) · UniProtKB (1) |
| Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Afzal A.R., Rajab A., Fenske C.D., Oldridge M., Elanko N., Ternes-Pereira E., Tueysuez B., Murday V.A., Patton M.A., Wilkie A.O.M. et al. |
| Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Wilkie A.O.M., Tang Z., Elanko N., Walsh S., Twigg S.R.F., Hurst J.A., Wall S.A., Chrzanowska K.H., Maxson R.E. Jr. |
| Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Glaser R.L., Jiang W., Boyadjiev S.A., Tran A.K., Zachary A.A., Van Maldergem L., Johnson D., Walsh S., Oldridge M., Wall S.A. et al. Am. J. Hum. Genet. 66:768-777(2000) · UniProtKB (1) |
| Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Oldridge M., Fortuna A.M., Maringa M., Propping P., Mansour S., Pollitt C., DeChiara T.M., Kimble R.B., Valenzuela D.M., Yancopoulos G.D. et al. |
| Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis. Twigg S.R., Wilkie A.O.M. |
| Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3. Twigg S.R.F., Burns H.D., Oldridge M., Heath J.K., Wilkie A.O.M. Hum. Mol. Genet. 7:685-691(1998) · UniProtKB (1) |
| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Muenke M., Gripp K.W., McDonald-Mcginn D.M., Gaudenz K., Whitaker L.A., Bartlett S.P., Markowitz R.I., Robin N.H., Nwokoro N., Mulvihill J.J. et al. Am. J. Hum. Genet. 60:555-564(1997) · UniProtKB (1) |
| Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Oldridge M., Lunt P.W., Zackai E.H., McDonald-Mcginn D.M., Muenke M., Moloney D.M., Twigg S.R.F., Heath J.K., Howard T.D., Hoganson G. et al. Hum. Mol. Genet. 6:137-143(1997) · UniProtKB (1) |
| Exclusive paternal origin of new mutations in Apert syndrome. Moloney D.M., Slaney S.F., Oldridge M., Wall S.A., Sahlin P., Stenman G., Wilkie A.O.M. Nat. Genet. 13:48-53(1996) · UniProtKB (1) |
| Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Rutland P., Pulleyn L.J., Reardon W., Baraister M., Hayward R., Jones B.M., Malcolm S., Winter R.M., Oldridge M., Slaney S.F. et al. Nat. Genet. 9:173-176(1995) · UniProtKB (1) |
| Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Wilkie A.O.M., Slaney S.F., Oldridge M., Poole M.D., Ashworth G.J., Hockley A.D., Hayward R.D., David D.J., Pulleyn L.J., Rutland P. et al. Nat. Genet. 9:165-172(1995) · UniProtKB (1) |
| Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Oldridge M., Wilkie A.O.M., Slaney S.F., Poole M.D., Pulleyn L.J., Rutland P., Hockley A.D., Wake M.J.C., Goldin J.H., Winter R.M. et al. Hum. Mol. Genet. 4:1077-1082(1995) · UniProtKB (1) |