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Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
Wallace AJ, Watson CJ, Oward E, Evans DG, Elles RG. Wallace AJ, et al. Among authors: elles rg. Genet Test. 2004 Winter;8(4):368-80. doi: 10.1089/gte.2004.8.368. Genet Test. 2004. PMID: 15684865 Clinical Trial.
Prenatal diagnosis in a family with X-linked hydrocephalus.
Panayi M, Gokhale D, Mansour S, Elles R. Panayi M, et al. Prenat Diagn. 2005 Oct;25(10):930-3. doi: 10.1002/pd.1228. Prenat Diagn. 2005. PMID: 16088863
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD. Kennedy J, et al. Eur J Hum Genet. 2005 May;13(5):547-55. doi: 10.1038/sj.ejhg.5201374. Eur J Hum Genet. 2005. PMID: 15756302 Free PMC article. Review.
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.
Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD. Kennedy J, et al. Hum Mutat. 2005 Jun;25(6):593-4. doi: 10.1002/humu.9342. Hum Mutat. 2005. PMID: 15880723
An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.
Lalloo F, Cochrane S, Bulman B, Varley J, Elles R, Howell A, Evans DG. Lalloo F, et al. J Med Genet. 1998 Jan;35(1):10-2. doi: 10.1136/jmg.35.1.10. J Med Genet. 1998. PMID: 9475087 Free PMC article.
Germline mutation of ARF in a melanoma kindred.
Hewitt C, Lee Wu C, Evans G, Howell A, Elles RG, Jordan R, Sloan P, Read AP, Thakker N. Hewitt C, et al. Among authors: elles rg. Hum Mol Genet. 2002 May 15;11(11):1273-9. doi: 10.1093/hmg/11.11.1273. Hum Mol Genet. 2002. PMID: 12019208
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma.
Boon EM, Schlecht HB, Martin P, Daniels G, Vossen RH, den Dunnen JT, Bakker B, Elles R. Boon EM, et al. Prenat Diagn. 2007 Oct;27(10):932-7. doi: 10.1002/pd.1804. Prenat Diagn. 2007. PMID: 17600849
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