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235 results
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Cancer drugs to treat birth defects.
Wilkie AO. Wilkie AO. Nat Genet. 2007 Sep;39(9):1057-9. doi: 10.1038/ng0907-1057. Nat Genet. 2007. PMID: 17728773 No abstract available.
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO. Goriely A, et al. Among authors: wilkie ao. Nat Genet. 2009 Nov;41(11):1247-52. doi: 10.1038/ng.470. Epub 2009 Oct 25. Nat Genet. 2009. PMID: 19855393 Free PMC article.
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO. Mavrogiannis LA, et al. Among authors: wilkie ao. Nat Genet. 2001 Jan;27(1):17-8. doi: 10.1038/83703. Nat Genet. 2001. PMID: 11137991
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. Wilkie AO, et al. Nat Genet. 2000 Apr;24(4):387-90. doi: 10.1038/74224. Nat Genet. 2000. PMID: 10742103
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Afzal AR, et al. Among authors: wilkie ao. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. Nat Genet. 2000. PMID: 10932186
Genetics of craniofacial development and malformation.
Wilkie AO, Morriss-Kay GM. Wilkie AO, et al. Nat Rev Genet. 2001 Jun;2(6):458-68. doi: 10.1038/35076601. Nat Rev Genet. 2001. PMID: 11389462 Review.
Exclusive paternal origin of new mutations in Apert syndrome.
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Moloney DM, et al. Among authors: wilkie ao. Nat Genet. 1996 May;13(1):48-53. doi: 10.1038/ng0596-48. Nat Genet. 1996. PMID: 8673103
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, Santos HG, van Harssel JJ, de Ravel T, Wilkie AO, Gal A, Mundlos S. Kurth I, et al. Among authors: wilkie ao. Nat Genet. 2009 Aug;41(8):862-3. doi: 10.1038/ng0809-862. Nat Genet. 2009. PMID: 19639023 No abstract available.
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. Oldridge M, et al. Among authors: wilkie ao. Nat Genet. 2000 Mar;24(3):275-8. doi: 10.1038/73495. Nat Genet. 2000. PMID: 10700182
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Wilkie AO, et al. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344
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