Wilkie AO - Search Results

1

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. Justice CM, et al. Among authors: wilkie ao. Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18. Nat Genet. 2012. PMID: 23160099 Free PMC article.

2

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

3

Craniosynostosis: novel insights into pathogenesis and treatment.

Wilkie AO, Wall SA. Wilkie AO, et al. Curr Opin Neurol. 1996 Apr;9(2):146-52. Curr Opin Neurol. 1996. PMID: 8782984 Review.

4

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Glaser RL, et al. Among authors: wilkie ao. Am J Hum Genet. 2000 Mar;66(3):768-77. doi: 10.1086/302831. Am J Hum Genet. 2000. PMID: 10712195 Free PMC article.

5

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

6

A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?

Johnson D, Wall SA, Mann S, Wilkie AO. Johnson D, et al. Among authors: wilkie ao. Eur J Hum Genet. 2000 Aug;8(8):571-7. doi: 10.1038/sj.ejhg.5200499. Eur J Hum Genet. 2000. PMID: 10951518

7

Newly recognised craniosynostosis syndrome that does not map to known disease loci.

Blair EM, Walsh S, Oldridge M, Wall SA, Wilkie AO. Blair EM, et al. Among authors: wilkie ao. Am J Med Genet. 2000 Nov 6;95(1):4-9. doi: 10.1002/1096-8628(20001106)95:1<4::aid-ajmg2>3.0.co;2-4. Am J Med Genet. 2000. PMID: 11074486

8

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

9

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Kan SH, et al. Among authors: wilkie ao. Am J Hum Genet. 2002 Feb;70(2):472-86. doi: 10.1086/338758. Epub 2002 Jan 4. Am J Hum Genet. 2002. PMID: 11781872 Free PMC article.

10

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO. Rannan-Eliya SV, et al. Among authors: wilkie ao. Hum Genet. 2004 Aug;115(3):200-7. doi: 10.1007/s00439-004-1151-5. Epub 2004 Jul 7. Hum Genet. 2004. PMID: 15241680

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