Wilkie AO - Search Results

1

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: wilkie ao. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628315 Free PMC article.

2

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

Wilkie AO, Gibbons RJ, Higgs DR, Pembrey ME. Wilkie AO, et al. J Med Genet. 1991 Nov;28(11):738-41. doi: 10.1136/jmg.28.11.738. J Med Genet. 1991. PMID: 1770529 Free PMC article.

3

Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.

Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. Wilkie AO, et al. Am J Med Genet. 1993 Jun 15;46(5):597-600. doi: 10.1002/ajmg.1320460527. Am J Med Genet. 1993. PMID: 8322827 Review.

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

5

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Upadhyaya M, Roberts SH, Maynard J, Sorour E, Thompson PW, Vaughan M, Wilkie AO, Hughes HE. Upadhyaya M, et al. Among authors: wilkie ao. J Med Genet. 1996 Feb;33(2):148-52. doi: 10.1136/jmg.33.2.148. J Med Genet. 1996. PMID: 8929953 Free PMC article.

6

Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.

Nixon J, Oldridge M, Wilkie AO, Smith K. Nixon J, et al. Among authors: wilkie ao. Am J Med Genet. 1997 Jun 13;70(3):324-7. Am J Med Genet. 1997. PMID: 9188674

7

ACTH receptor mutation in a girl with familial glucocorticoid deficiency.

Slavotinek AM, Hurst JA, Dunger D, Wilkie AO. Slavotinek AM, et al. Among authors: wilkie ao. Clin Genet. 1998 Jan;53(1):57-62. doi: 10.1034/j.1399-0004.1998.531530112.x. Clin Genet. 1998. PMID: 9550364

8

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

9

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T. Wilkie AO, et al. Am J Med Genet A. 2006 Dec 1;140(23):2631-9. doi: 10.1002/ajmg.a.31366. Am J Med Genet A. 2006. PMID: 16838304 Review.

10

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO. Babbs C, et al. Among authors: wilkie ao. Hum Genet. 2007 Sep;122(2):191-9. doi: 10.1007/s00439-007-0390-7. Epub 2007 Jun 14. Hum Genet. 2007. PMID: 17569090

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