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Results: 1-15 |
Results: 15
Lowe level mosaicism detectable by DHPLC but not by direct sequencing
Authors: Jones, AC Sampson, JR Cheadle, JP
Citation: Ac. Jones et al., Lowe level mosaicism detectable by DHPLC but not by direct sequencing, HUM MUTAT, 17(3), 2001, pp. 233-234
Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression
Authors: Soucek, T Rosner, M Miloloza, A Kubista, M Cheadle, JP Sampson, JR Hengstschlager, M
Citation: T. Soucek et al., Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression, ONCOGENE, 20(35), 2001, pp. 4904-4909
Ethical approval for research involving geographically dispersed subjects:unsuitability of the UK MREC/LREC system and relevance to uncommon geneticdisorders
Authors: Lewis, JC Tomkins, S Sampson, JR
Citation: Jc. Lewis et al., Ethical approval for research involving geographically dispersed subjects:unsuitability of the UK MREC/LREC system and relevance to uncommon geneticdisorders, J MED ETHIC, 27(5), 2001, pp. 347-351
LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures
Authors: Fleming, N Maynard, J Tzitzis, L Sampson, JR Cheadle, JP
Citation: N. Fleming et al., LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures, J BIOCH BIO, 47(1-2), 2001, pp. 131-136
Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas
Authors: Parry, L Maynard, JH Patel, A Clifford, SC Morrissey, C Maher, ER Cheadle, JP Sampson, JR
Citation: L. Parry et al., Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas, BR J CANC, 85(8), 2001, pp. 1226-1230
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
Authors: Cheadle, JP Gill, H Fleming, N Maynard, J Kerr, A Leonard, H Krawczak, M Cooper, DN Lynch, S Thomas, N Hughes, H Hulten, M Ravine, D Sampson, JR Clarke, A
Citation: Jp. Cheadle et al., Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location, HUM MOL GEN, 9(7), 2000, pp. 1119-1129
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (vol 9, pg 1119, 2000)
Authors: Cheadle, JP Gill, H Fleming, N Maynard, J Kerr, A Leonard, H Krawczak, M Cooper, DN Lynch, S Thomas, N Hughes, H Hulten, M Ravine, D Sampson, JR Clarke, A
Citation: Jp. Cheadle et al., Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (vol 9, pg 1119, 2000), HUM MOL GEN, 9(11), 2000, pp. 1717-1717
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
Authors: Benvenuto, G Li, SW Brown, SJ Braverman, R Vass, WC Cheadle, JP Halley, DJJ Sampson, JR Wienecke, R DeClue, JE
Citation: G. Benvenuto et al., The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination, ONCOGENE, 19(54), 2000, pp. 6306-6316
Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus
Authors: Cheadle, JP Dobbie, L Idziaszczyk, S Hodges, AK Smith, AJH Sampson, JR Young, J
Citation: Jp. Cheadle et al., Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus, MAMM GENOME, 11(12), 2000, pp. 1135-1138
Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours
Authors: Parry, L Maynard, JH Patel, A Hodges, AK von Deimling, A Sampson, JR Cheadle, JP
Citation: L. Parry et al., Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours, HUM GENET, 107(4), 2000, pp. 350-356
Molecular genetic advances in tuberous sclerosis
Authors: Cheadle, JP Reeve, MP Sampson, JR Kwiatkowski, DJ
Citation: Jp. Cheadle et al., Molecular genetic advances in tuberous sclerosis, HUM GENET, 107(2), 2000, pp. 97-114
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
Authors: Jones, AC Sampson, JR Hoogendoorn, B Cohen, D Cheadle, JP
Citation: Ac. Jones et al., Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis, HUM GENET, 106(6), 2000, pp. 663-668
Non-penetrance in tuberous sclerosis
Authors: Osborne, JP Jones, AC Burley, MW Jeganathan, D Young, J O'Callaghan, FJ Sampson, JR Povey, S
Citation: Jp. Osborne et al., Non-penetrance in tuberous sclerosis, LANCET, 355(9216), 2000, pp. 1698-1698
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
Authors: Woodford-Richens, K Bevan, S Churchman, M Dowling, B Jones, D Norbury, CG Hodgson, SV Desai, D Neale, K Phillips, RKS Young, J Leggett, B Dunlop, M Rozen, P Eng, C Markie, D Rodriguez-Bigas, MA Sheridan, E Iwama, T Eccles, D Smith, GT Kim, JC Kim, KM Sampson, JR Evans, G Tejpar, S Bodmer, WF Tomlinson, IPM Houlston, RS
Citation: K. Woodford-richens et al., Analysis of genetic and phenotypic heterogeneity in juvenile polyposis, GUT, 46(5), 2000, pp. 656-660
Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis
Authors: Jones, AC Shyamsundar, MM Thomas, MW Maynard, J Idziaszczyk, S Tomkins, S Sampson, JR Cheadle, JP
Citation: Ac. Jones et al., Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis, AM J HU GEN, 64(5), 1999, pp. 1305-1315
Risultati: 1-15 |