Wall SA - Search Results

1

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO. Twigg SR, et al. Among authors: wall sa. Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354439 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: wall sa. 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. Among authors: wall sa. Curr Opin Neurol. 1996 Apr;9(2):146-52. Curr Opin Neurol. 1996. PMID: 8782984 Review.

4

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO. Moloney DM, et al. Among authors: wall sa. Lancet. 1997 Apr 12;349(9058):1059-62. doi: 10.1016/s0140-6736(96)09082-4. Lancet. 1997. PMID: 9107244

5

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO. Johnson D, et al. Among authors: wall sa. Am J Hum Genet. 1998 Nov;63(5):1282-93. doi: 10.1086/302122. Am J Hum Genet. 1998. PMID: 9792856 Free PMC article.

6

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. Oldridge M, et al. Among authors: wall sa. Am J Hum Genet. 1999 Feb;64(2):446-61. doi: 10.1086/302245. Am J Hum Genet. 1999. PMID: 9973282 Free PMC article.

7

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. Among authors: wall sa. Nat Genet. 2000 Apr;24(4):387-90. doi: 10.1038/74224. Nat Genet. 2000. PMID: 10742103

8

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: wall sa. Eur J Hum Genet. 2000 Aug;8(8):571-7. doi: 10.1038/sj.ejhg.5200499. Eur J Hum Genet. 2000. PMID: 10951518

9

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: wall sa. 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

10

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: wall sa. Nat Genet. 2001 Jan;27(1):17-8. doi: 10.1038/83703. Nat Genet. 2001. PMID: 11137991

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