Wilkie AO - Search Results

1

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO; UK10K Consortium; Fitzpatrick DR. Williamson KA, et al. Among authors: wilkie ao. Am J Hum Genet. 2014 Feb 6;94(2):295-302. doi: 10.1016/j.ajhg.2014.01.001. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462371 Free PMC article.

2

Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

Wilkie AO, Taylor D, Scambler PJ, Baraitser M. Wilkie AO, et al. Clin Dysmorphol. 1993 Apr;2(2):114-9. Clin Dysmorphol. 1993. PMID: 8281271

3

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: wilkie ao. Am J Hum Genet. 1996 May;58(5):923-32. Am J Hum Genet. 1996. PMID: 8651276 Free PMC article.

4

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Ravine D, et al. Among authors: wilkie ao. Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:2<227::aid-ajmg19>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382148

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: wilkie ao. 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

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

Oldridge M, Temple IK, Santos HG, Gibbons RJ, Mustafa Z, Chapman KE, Loughlin J, Wilkie AO. Oldridge M, et al. Among authors: wilkie ao. Am J Hum Genet. 1999 Feb;64(2):578-85. doi: 10.1086/302255. Am J Hum Genet. 1999. PMID: 9973296 Free PMC article.

7

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO. Oldridge M, et al. Among authors: wilkie ao. Nat Genet. 2000 Mar;24(3):275-8. doi: 10.1038/73495. Nat Genet. 2000. PMID: 10700182

8

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. Among authors: wilkie ao. 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.

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

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO. Johnson D, et al. Among authors: wilkie ao. Am J Hum Genet. 2003 Apr;72(4):984-97. doi: 10.1086/374721. Epub 2003 Mar 14. Am J Hum Genet. 2003. PMID: 12649808 Free PMC article.

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