Whittaker J - Search Results

1

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

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

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

5

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

6

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

7

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.

8

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

9

Molecular prenatal diagnosis: the impact of modern technologies.

Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS. Raymond FL, et al. Among authors: whittaker j. Prenat Diagn. 2010 Jul;30(7):674-81. doi: 10.1002/pd.2575. Prenat Diagn. 2010. PMID: 20572117 Review.

10

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C. Baralle D, et al. Among authors: whittaker j. Am J Med Genet A. 2003 May 15;119A(1):1-8. doi: 10.1002/ajmg.a.20023. Am J Med Genet A. 2003. PMID: 12707950

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