Oldridge M - Search Results

1

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. Am J Hum Genet. 1999 Feb;64(2):446-61. doi: 10.1086/302245. Am J Hum Genet. 1999. PMID: 9973282 Free PMC article.

2

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM, et al. Oldridge M, et al. Hum Mol Genet. 1995 Jun;4(6):1077-82. doi: 10.1093/hmg/4.6.1077. Hum Mol Genet. 1995. PMID: 7655462

3

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. Among authors: oldridge m. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344

4

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie AO. Slaney SF, et al. Among authors: oldridge m. Am J Hum Genet. 1996 May;58(5):923-32. Am J Hum Genet. 1996. PMID: 8651276 Free PMC article.

5

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: oldridge m. Nat Genet. 1996 May;13(1):48-53. doi: 10.1038/ng0596-48. Nat Genet. 1996. PMID: 8673103

6

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO. Oldridge M, et al. Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137. Hum Mol Genet. 1997. PMID: 9002682

7

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

Twigg SR, Burns HD, Oldridge M, Heath JK, Wilkie AO. Twigg SR, et al. Among authors: oldridge m. Hum Mol Genet. 1998 Apr;7(4):685-91. doi: 10.1093/hmg/7.4.685. Hum Mol Genet. 1998. PMID: 9499422

8

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: oldridge m. Am J Hum Genet. 1998 Nov;63(5):1282-93. doi: 10.1086/302122. Am J Hum Genet. 1998. PMID: 9792856 Free PMC article.

9

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

10

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: oldridge m. 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

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