Whittaker J - Search Results

1

RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Cranston AN, Carniti C, Oakhill K, Radzio-Andzelm E, Stone EA, McCallion AS, Hodgson S, Clarke S, Mondellini P, Leyland J, Pierotti MA, Whittaker J, Taylor SS, Bongarzone I, Ponder BA. Cranston AN, et al. Among authors: whittaker j. Cancer Res. 2006 Oct 15;66(20):10179-87. doi: 10.1158/0008-5472.CAN-06-0884. Cancer Res. 2006. PMID: 17047083

2

Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A.

Lesueur F, Cebrian A, Robledo M, Niccoli-Sire P, Svensson KA, Pinson S, Leyland J, Whittaker J, Pharoah PD, Ponder BA. Lesueur F, et al. Among authors: whittaker j. Cancer Res. 2006 Jan 15;66(2):1177-80. doi: 10.1158/0008-5472.CAN-05-2995. Cancer Res. 2006. PMID: 16424056

3

Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients.

Lesueur F, Cebrian A, Cranston A, Leyland J, Faid TM, Clements MR, Robledo M, Whittaker J, Ponder BA. Lesueur F, et al. Among authors: whittaker j. J Clin Endocrinol Metab. 2005 Jun;90(6):3454-7. doi: 10.1210/jc.2004-1622. Epub 2005 Mar 1. J Clin Endocrinol Metab. 2005. PMID: 15741265

4

Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma.

Cebrian A, Lesueur F, Martin S, Leyland J, Ahmed S, Luccarini C, Smith PL, Luben R, Whittaker J, Pharoah PD, Dunning AM, Ponder BA. Cebrian A, et al. Among authors: whittaker j. J Clin Endocrinol Metab. 2005 Nov;90(11):6268-74. doi: 10.1210/jc.2004-2449. Epub 2005 Aug 9. J Clin Endocrinol Metab. 2005. PMID: 16091499

5

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.

Richards AJ, McNinch A, Whittaker J, Treacy B, Oakhill K, Poulson A, Snead MP. Richards AJ, et al. Among authors: whittaker j. Eur J Hum Genet. 2012 May;20(5):552-8. doi: 10.1038/ejhg.2011.223. Epub 2011 Dec 21. Eur J Hum Genet. 2012. PMID: 22189268 Free PMC article.

6

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Richards AJ, McNinch A, Martin H, Oakhill K, Rai H, Waller S, Treacy B, Whittaker J, Meredith S, Poulson A, Snead MP. Richards AJ, et al. Among authors: whittaker j. Hum Mutat. 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257. Hum Mutat. 2010. PMID: 20513134

7

Properties of rat cells transformed by DNA plasmids containing adenovirus type 12 E1 DNA or specific fragments of the E1 region: comparison of transforming frequencies.

Gallimore PH, Byrd PJ, Whittaker JL, Grand RJ. Gallimore PH, et al. Among authors: whittaker jl. Cancer Res. 1985 Jun;45(6):2670-80. Cancer Res. 1985. PMID: 3986802

8

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.

Richards AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP. Richards AJ, et al. Among authors: whittaker j. Hum Mutat. 2006 Jul;27(7):696-704. doi: 10.1002/humu.20347. Hum Mutat. 2006. PMID: 16752401

9

How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network.

Kroese M, Zimmern RL, Farndon P, Stewart F, Whittaker J. Kroese M, et al. Among authors: whittaker j. Eur J Hum Genet. 2007 Sep;15(9):917-21. doi: 10.1038/sj.ejhg.5201867. Epub 2007 May 30. Eur J Hum Genet. 2007. PMID: 17534375

10

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype.

Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick-Jones J, Ellis JA. Yates JR, et al. Among authors: whittaker jl. Neuromuscul Disord. 1999 May;9(3):159-65. Neuromuscul Disord. 1999. PMID: 10382909

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