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Results: 1-25 | 26-32
Results: 1-25/32
Adenocarcinoma of the rat esophagus in the presence of a proton pump inhibitor: a pilot study
Authors: Moore, KH Barry, P Burn, J Falk, G
Citation: Kh. Moore et al., Adenocarcinoma of the rat esophagus in the presence of a proton pump inhibitor: a pilot study, DIS ESOPHAG, 14(1), 2001, pp. 17-22
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
Authors: Curtis, ARJ Fey, C Morris, CM Bindoff, LA Ince, PG Chinnery, PF Coulthard, A Jackson, MJ Jackson, AP McHale, DP Hay, D Barker, WA Markham, AF Bates, D Curtis, A Burn, J
Citation: Arj. Curtis et al., Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease, NAT GENET, 28(4), 2001, pp. 350-354
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Authors: Witsch-Raumgartner, M Ciara, E Loffler, J Menzel, HJ Seedorf, U Burn, J Gillessen-Kaesbach, G Hoffmann, GF Fitzy, BU Mundy, H Clayton, P Kelley, RI Krajewska-Walasek, M Utermann, G
Citation: M. Witsch-raumgartner et al., Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations, EUR J HUM G, 9(1), 2001, pp. 45-50
Implications of extranodal spread in node positive breast cancer: a reviewof survival and local recurrence
Authors: Bucci, JA Kennedy, CW Burn, J Gillett, DJ Carmalt, HL Donnellan, MJ Joseph, MG Pendlebury, SC
Citation: Ja. Bucci et al., Implications of extranodal spread in node positive breast cancer: a reviewof survival and local recurrence, BREAST, 10(3), 2001, pp. 213-219
Three views of genetics: the enthusiast, the visionary, and the sceptic - Making genetics everyone's business
Authors: Burn, J
Citation: J. Burn, Three views of genetics: the enthusiast, the visionary, and the sceptic - Making genetics everyone's business, BR MED J, 322(7293), 2001, pp. 1016-1016
Isolation and characterization of mutants defective in seed coat mucilage secretory cell development in arabidopsis
Authors: Western, TL Burn, J Tan, WL Skinner, DJ Martin-McCaffrey, L Moffatt, BA Haughn, GW
Citation: Tl. Western et al., Isolation and characterization of mutants defective in seed coat mucilage secretory cell development in arabidopsis, PLANT PHYSL, 127(3), 2001, pp. 998-1011
Colonic crypt cell proliferation state assessed by whole crypt microdissection in sporadic neoplasia and familial adenomatous polyposis
Authors: Mills, SJ Mathers, JC Chapman, PD Burn, J Gunn, A
Citation: Sj. Mills et al., Colonic crypt cell proliferation state assessed by whole crypt microdissection in sporadic neoplasia and familial adenomatous polyposis, GUT, 48(1), 2001, pp. 41-46
A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics
Authors: Wonderling, D Hopwood, P Cull, A Douglas, F Watson, M Burn, J McPherson, K
Citation: D. Wonderling et al., A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics, BR J CANC, 85(2), 2001, pp. 166-170
Individual variation in somatic mutations of the glycophorin-A gene in neonates in relation to pre-natal factors
Authors: Daniel, CP Fisher, A Parker, L Burn, J Tawn, EJ
Citation: Cp. Daniel et al., Individual variation in somatic mutations of the glycophorin-A gene in neonates in relation to pre-natal factors, MUT RES-GTE, 467(2), 2000, pp. 153-159
UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype
Authors: Goodship, JA Burn, J
Citation: Ja. Goodship et J. Burn, UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype, MOL MED TOD, 6(1), 2000, pp. 14-14
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability
Authors: Healey, CS Dunning, AM Teare, MD Chase, D Parker, L Burn, J Chang-Claude, J Mannermaa, A Kataja, V Huntsman, DG Pharoah, PDP Luben, RN Easton, DF Ponder, BAJ
Citation: Cs. Healey et al., A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability, NAT GENET, 26(3), 2000, pp. 362-364
Identification of the familial cylindromatosis tumour-suppressor gene
Authors: Bignell, GR Warren, W Seal, S Takahashi, M Rapley, E Barfoot, R Green, H Brown, C Biggs, PJ Lakhani, SR Jones, C Hansen, J Blair, E Hofmann, B Siebert, R Turner, G Evans, DG Schrander-Stumpel, C Beemer, FA van den Ouweland, A Halley, D Delpech, B Cleveland, MG Leigh, I Leisti, J Rasmussen, S Wallace, MR Fenske, C Banerjee, P Oiso, N Chaggar, R Merrett, S Leonard, N Huber, M Hohl, D Chapman, P Burn, J Swift, S Smith, A Ashworth, A Stratton, MR
Citation: Gr. Bignell et al., Identification of the familial cylindromatosis tumour-suppressor gene, NAT GENET, 25(2), 2000, pp. 160-165
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
Authors: Satoda, M Zhao, F Diaz, GA Burn, J Goodship, J Davidson, HR Pierpont, MEM Gelb, BD
Citation: M. Satoda et al., Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus, NAT GENET, 25(1), 2000, pp. 42-46
Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach
Authors: Fidalgo, P Almeida, MR West, S Gaspar, C Maia, L Wijnen, J Albuquerque, C Curtis, A Cravo, M Fodde, R Leitao, CN Burn, J
Citation: P. Fidalgo et al., Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach, EUR J HUM G, 8(1), 2000, pp. 49-53
Patenting genes: a dangerous EU directive
Authors: Vigen, T Haites, N Burn, J Moller, P Steel, M
Citation: T. Vigen et al., Patenting genes: a dangerous EU directive, BR J GEN PR, 50(453), 2000, pp. 337-337
Population based, prospective study of the care of women with epilepsy in pregnancy
Authors: Fairgrieve, SD Jackson, M Jonas, P Walshaw, D White, K Montgomery, TL Burn, J Lynch, SA
Citation: Sd. Fairgrieve et al., Population based, prospective study of the care of women with epilepsy in pregnancy, BR MED J, 321(7262), 2000, pp. 674-675
Linkage and LOH studies in 19 cylindromatosis families show no evidence ofgenetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13
Authors: Takahashi, M Rapley, E Biggs, PJ Lakhani, SR Cooke, D Hansen, J Blair, E Hofmann, B Siebert, R Turner, G Evans, DG Schrander-Stumpel, C Beemer, FA van Vloten, WA Breuning, MH van den Ouweland, A Halley, D Delpech, B Cleveland, M Leigh, I Chapman, P Burn, J Hohl, D Gorog, JP Seal, S Mangion, J Warren, W Bignell, G Stratton, MR
Citation: M. Takahashi et al., Linkage and LOH studies in 19 cylindromatosis families show no evidence ofgenetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13, HUM GENET, 106(1), 2000, pp. 58-65
Effect of anti-epileptic drugs on intrauterine growth
Authors: Finnell, RH Burn, J
Citation: Rh. Finnell et J. Burn, Effect of anti-epileptic drugs on intrauterine growth, LANCET, 356(9241), 2000, pp. 1537-1538
Autosomal dominant sacral agenesis: Currarino syndrome
Authors: Lynch, SA Wang, YM Strachan, T Burn, J Lindsay, S
Citation: Sa. Lynch et al., Autosomal dominant sacral agenesis: Currarino syndrome, J MED GENET, 37(8), 2000, pp. 561-566
Endoglin, an ancillary TGF beta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development
Authors: Arthur, HM Ure, J Smith, AJH Renforth, G Wilson, DI Torsney, E Charlton, R Parums, DV Jowett, T Marchuk, DA Burn, J Diamond, AG
Citation: Hm. Arthur et al., Endoglin, an ancillary TGF beta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development, DEVELOP BIO, 217(1), 2000, pp. 42-53
Gene Therapy Advisory Committee - Report on the potential use of gene therapy in utero
Authors: Denison, CK Barnes, R Gibson, B Hunt, A Hart, I Steel, M Casimir, C Liu, D Nevin, NC Anionwu, E Burn, J Dayan, A Denison, K Johnston, P Marteau, T Neil, J Pinching, A Platt, E Richards, B Steel, CM Train, I
Citation: Ck. Denison et al., Gene Therapy Advisory Committee - Report on the potential use of gene therapy in utero, HUM GENE TH, 10(4), 1999, pp. 689-692
Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis
Authors: Ryan, A Burn, J Court, S Jackson, T Smith, JC Barwick, D
Citation: A. Ryan et al., Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis, CLIN DYSMOR, 8(1), 1999, pp. 15-18
Rapid resolution of tumoral calcinosis after renal transplantation
Authors: McGregor, D Burn, J Lynn, K Robson, R
Citation: D. Mcgregor et al., Rapid resolution of tumoral calcinosis after renal transplantation, CLIN NEPHR, 51(1), 1999, pp. 54-58
Genetic predictive testing for bowel cancer predisposition: the impact on the individual
Authors: Chapman, PD Burn, J
Citation: Pd. Chapman et J. Burn, Genetic predictive testing for bowel cancer predisposition: the impact on the individual, CYTOG C GEN, 86(2), 1999, pp. 118-124
Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies
Authors: Aitken, DA Ireland, M Berry, E Crossley, JA Macri, JN Burn, J Connor, JM
Citation: Da. Aitken et al., Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies, PRENAT DIAG, 19(8), 1999, pp. 706-710
Risultati: 1-25 | 26-32