Wall SA - Search Results

1

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, van den Ouweland AM, Wall SA, Mathijssen IM, Wilkie AO. Fenwick AL, et al. Among authors: wall sa. BMC Med Genet. 2014 Aug 31;15:95. doi: 10.1186/s12881-014-0095-4. BMC Med Genet. 2014. PMID: 25174698 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

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Among authors: wall sa. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

5

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

6

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.

7

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.

8

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: wall sa. Am J Hum Genet. 2000 Mar;66(3):768-77. doi: 10.1086/302831. Am J Hum Genet. 2000. PMID: 10712195 Free PMC article.

9

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

10

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

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