Whittaker JL - Search Results

1

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

2

Molecular prenatal diagnosis: the impact of modern technologies.

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

3

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. Hum Mutat. 2010 Jun;31(6):E1461-71. doi: 10.1002/humu.21257. Hum Mutat. 2010. PMID: 20513134

4

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. 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

5

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.

Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S. Evans K, et al. Among authors: whittaker jl. Nat Genet. 1994 Feb;6(2):210-3. doi: 10.1038/ng0294-210. Nat Genet. 1994. PMID: 8162077

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. 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. 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

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. Cancer Res. 2006 Oct 15;66(20):10179-87. doi: 10.1158/0008-5472.CAN-06-0884. Cancer Res. 2006. PMID: 17047083

9

Refinement of the cone-rod retinal dystrophy locus on chromosome 19q.

Gregory CY, Evans K, Whittaker JL, Fryer A, Weissenbach J, Bhattacharya SS. Gregory CY, et al. Among authors: whittaker jl. Am J Hum Genet. 1994 Nov;55(5):1061-3. Am J Hum Genet. 1994. PMID: 7977344 Free PMC article. No abstract available.

10

The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.

Evans K, Gregory CY, Fryer A, Whittaker J, Duvall-Young J, Bird AC, Jay MR, Bhattacharya SS. Evans K, et al. Eye (Lond). 1995;9 ( Pt 1):24-8. doi: 10.1038/eye.1995.3. Eye (Lond). 1995. PMID: 7713246

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

148 results

Search Page

Filters