Whittaker J - Search Results

1

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.

Baralle M, Baralle D, De Conti L, Mattocks C, Whittaker J, Knezevich A, Ffrench-Constant C, Baralle FE. Baralle M, et al. Among authors: whittaker j. J Med Genet. 2003 Mar;40(3):220-2. doi: 10.1136/jmg.40.3.220. J Med Genet. 2003. PMID: 12624144 Free PMC article. No abstract available.

2

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

Whittaker JL, Mattocks C, Baralle D, Tarpey P, ffrench-Constant C, Bobrow M. Whittaker JL, et al. J Med Genet. 2005 Jul;42(7):e41. J Med Genet. 2005. PMID: 15994866 Free PMC article. No abstract available.

3

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

Mattocks C, Baralle D, Tarpey P, ffrench-Constant C, Bobrow M, Whittaker J. Mattocks C, et al. Among authors: whittaker j. J Med Genet. 2004 Apr;41(4):e48. doi: 10.1136/jmg.2003.011890. J Med Genet. 2004. PMID: 15060124 Free PMC article. No abstract available.

4

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).

Whittaker JL, Mattocks C, Baralle D, Tarpey P, Ffrench-Constant C, Bobrow M. Whittaker JL, et al. J Med Genet. 2005 Jun;42(6):e33. J Med Genet. 2005. PMID: 15937073 Free PMC article. No abstract available.

5

Comparative sequence analysis.

Mattocks C, Tarpey P, Whittaker J. Mattocks C, et al. Among authors: whittaker j. Methods Mol Med. 2004;92:115-24. doi: 10.1385/1-59259-432-8:115. Methods Mol Med. 2004. PMID: 14733309 No abstract available.

6

Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

Mattocks C, Tarpey P, Bobrow M, Whittaker J. Mattocks C, et al. Among authors: whittaker j. Hum Mutat. 2000 Nov;16(5):437-43. doi: 10.1002/1098-1004(200011)16:5<437::AID-HUMU9>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 11058902

7

Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers.

Berrios GE, Wagle AC, Marková IS, Wagle SA, Ho LW, Rubinsztein DC, Whittaker J, Ffrench-Constant C, Kershaw A, Rosser A, Bak T, Hodges JR. Berrios GE, et al. Among authors: whittaker j. Psychiatry Res. 2001 Jul 24;102(3):217-25. doi: 10.1016/s0165-1781(01)00257-8. Psychiatry Res. 2001. PMID: 11440772

8

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only.

Hes FJ, McKee S, Taphoorn MJ, Rehal P, van Der Luijt RB, McMahon R, van Der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJ, MacDonald F, Pearson PL, Maher ER. Hes FJ, et al. Among authors: whittaker j. J Med Genet. 2000 Dec;37(12):939-43. doi: 10.1136/jmg.37.12.939. J Med Genet. 2000. PMID: 11106358 Free PMC article.

9

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M. Rickman L, et al. Among authors: whittaker j. J Med Genet. 2006 Apr;43(4):353-61. doi: 10.1136/jmg.2005.037648. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199537 Free PMC article.

10

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

Tyreman M, Abbott KM, Willatt LR, Nash R, Lees C, Whittaker J, Simonic I. Tyreman M, et al. Among authors: whittaker j. J Med Genet. 2009 Aug;46(8):531-41. doi: 10.1136/jmg.2008.065482. Epub 2009 May 17. J Med Genet. 2009. PMID: 19451135

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