Wilkie AOM - Search Results

1

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study; van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM. Calpena E, et al. Among authors: wilkie aom. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905399 Free PMC article.

2

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR. Gibbons RJ, et al. Am J Hum Genet. 1992 Nov;51(5):1136-49. Am J Hum Genet. 1992. PMID: 1415255 Free PMC article.

3

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

Wilkie AO, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DH, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. Wilkie AO, et al. Am J Hum Genet. 1990 Jun;46(6):1127-40. Am J Hum Genet. 1990. PMID: 2339705 Free PMC article.

4

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

5

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. Hum Mol Genet. 1998 Apr;7(4):685-91. doi: 10.1093/hmg/7.4.685. Hum Mol Genet. 1998. PMID: 9499422

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. 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. 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

Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis.

Twigg SR, Wilkie AO. Twigg SR, et al. Hum Genet. 1999 Oct;105(4):320-6. doi: 10.1007/s004399900143. Hum Genet. 1999. PMID: 10543399

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

10

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Robertson SP, Walsh S, Oldridge M, Gunn T, Becroft D, Wilkie AO. Robertson SP, et al. Am J Hum Genet. 2001 Jul;69(1):223-7. doi: 10.1086/321280. Epub 2001 Jun 6. Am J Hum Genet. 2001. PMID: 11398100 Free PMC article.

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