Williamson KA - Search Results

1

PAX6 mutations may be associated with high myopia.

Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA. Hewitt AW, et al. Among authors: williamson ka. Ophthalmic Genet. 2007 Sep;28(3):179-82. doi: 10.1080/13816810701356676. Ophthalmic Genet. 2007. PMID: 17896318

2

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A. Malandrini A, et al. Clin Genet. 2001 Aug;60(2):151-4. doi: 10.1034/j.1399-0004.2001.600210.x. Clin Genet. 2001. PMID: 11553050

3

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V. Sisodiya SM, et al. Among authors: williamson ka. Nat Genet. 2001 Jul;28(3):214-6. doi: 10.1038/90042. Nat Genet. 2001. PMID: 11431688

4

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

Hever AM, Williamson KA, van Heyningen V. Hever AM, et al. Among authors: williamson ka. Clin Genet. 2006 Jun;69(6):459-70. doi: 10.1111/j.1399-0004.2006.00619.x. Clin Genet. 2006. PMID: 16712695 Review.

5

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S, van Heyningen V. Henderson RA, et al. Eur J Hum Genet. 2007 Aug;15(8):898-901. doi: 10.1038/sj.ejhg.5201826. Epub 2007 Apr 4. Eur J Hum Genet. 2007. PMID: 17406642

6

Cognitive functioning in humans with mutations of the PAX6 gene.

Thompson PJ, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM. Thompson PJ, et al. Among authors: williamson ka. Neurology. 2004 Apr 13;62(7):1216-8. doi: 10.1212/01.wnl.0000118298.81140.62. Neurology. 2004. PMID: 15079031

7

Mutations in SOX2 cause anophthalmia.

Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Fantes J, et al. Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612584

8

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H. Morrison D, et al. J Med Genet. 2002 Jan;39(1):16-22. doi: 10.1136/jmg.39.1.16. J Med Genet. 2002. PMID: 11826019 Free PMC article.

9

Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.

Little MH, Williamson KA, Mannens M, Kelsey A, Gosden C, Hastie ND, van Heyningen V. Little MH, et al. Among authors: williamson ka. Hum Mol Genet. 1993 Mar;2(3):259-64. doi: 10.1093/hmg/2.3.259. Hum Mol Genet. 1993. PMID: 8388765

10

Towards an understanding of Wilms' tumour.

Williamson KA, Van Heyningen V. Williamson KA, et al. Int J Exp Pathol. 1994 Jun;75(3):147-55. Int J Exp Pathol. 1994. PMID: 8086311 Free PMC article. Review.

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