1 - 25 of 56 results for author:"Burn J." in Literature citations
Results Customize
› Repeat search in UniProtKB (40)
| Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours. Rajan N., Elliott R., Clewes O., Mackay A., Reis-Filho J.S., Burn J., Langtry J., Sieber-Blum M., Lord C.J., Ashworth A. Oncogene 30:4243-4260(2011) · Mapped (10) |
| Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Griffin H.R., Topf A., Glen E., Zweier C., Stuart A.G., Parsons J., Peart I., Deanfield J., O'Sullivan J., Rauch A. et al. Heart 96:1651-1655(2010) · Mapped (3) |
| MLH1 Differential allelic expression in mutation carriers and controls. Santibanez Koref M., Wilson V., Cartwright N., Cunnington M.S., Mathers J.C., Bishop D.T., Curtis A., Dunlop M.G., Burn J. Ann. Hum. Genet. 74:479-488(2010) · Mapped (30) |
| Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. Cunnington M.S., Santibanez Koref M., Mayosi B.M., Burn J., Keavney B. PLoS Genet. 6:e1000899-e1000899(2010) · Mapped (6) |
| Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. Rajan N., Langtry J.A., Ashworth A., Roberts C., Chapman P., Burn J., Trainer A.H. Arch Dermatol 145:1277-1284(2009) · Mapped (5) |
| Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. Griffin H.R., Hall D.H., Topf A., Eden J., Stuart A.G., Parsons J., Peart I., Deanfield J.E., O'Sullivan J., Babu-Narayan S.V. et al. PLoS ONE 4:e4978-e4978(2009) · Mapped (7) |
| No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2 Breast Cancer Res. Treat. 117:371-379(2009) · Mapped (55) |
| Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Devos D., Tchofo P.J., Vuillaume I., Destee A., Batey S., Burn J., Chinnery P.F. Brain 132:e109-e109(2009) · Mapped (3) |
| High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Grindedal E.M., Blanco I., Stormorken A., Maehle L., Clark N., Gonzalez S., Capella G., Vasen H., Burn J., Moller P. Fam. Cancer 8:145-151(2009) · Mapped (52) |
| Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. Brown S.J., Relton C.L., Liao H., Zhao Y., Sandilands A., Wilson I.J., Burn J., Reynolds N.J., McLean W.H., Cordell H.J. J. Allergy Clin. Immunol. 121:940-46.e3(2008) · Mapped (10) |
| Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Douglas J., Cilliers D., Coleman K., Tatton-Brown K., Barker K., Bernhard B., Burn J., Huson S., Josifova D., Lacombe D. et al. |
| Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Chinnery P.F., Crompton D.E., Birchall D., Jackson M.J., Coulthard A., Lombes A., Quinn N., Wills A., Fletcher N., Mottershead J.P. et al. Brain 130:110-119(2007) · Mapped (3) |
| EASI--enrichment of alternatively spliced isoforms. Venables J.P., Burn J. Nucleic Acids Res. 34:e103-e103(2006) · UniProtKB (13) |
| Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Park J.G., Kim D.W., Hong C.W., Nam B.H., Shin Y.K., Hong S.H., Kim I.J., Lim S.B., Aronson M., Bisgaard M.L. et al. Clin. Cancer Res. 12:3389-3393(2006) · Mapped (52) |
| MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Hitchins M., Williams R., Cheong K., Halani N., Lin V.A., Packham D., Ku S., Buckle A., Hawkins N., Burn J. et al. Gastroenterology 129:1392-1399(2005) · Mapped (30) |
| TGFBR1*6A may contribute to hereditary colorectal cancer. Bian Y., Caldes T., Wijnen J., Franken P., Vasen H., Kaklamani V., Nafa K., Peterlongo P., Ellis N., Baron J.A. et al. J. Clin. Oncol. 23:3074-3078(2005) · Mapped (4) |
| Genes encoding ADP-ribosylation factors in Arabidopsis thaliana L. Heyn.; genome analysis and antisense suppression. Gebbie L.K., Burn J.E., Hocart C.H., Williamson R.E. J. Exp. Bot. 56:1079-1091(2005) · Mapped (14) |
| Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom. Wilding C.S., Relton C.L., Sutton M.J., Jonas P.A., Lynch S.A., Tawn E.J., Burn J. Birth Defects Res. Part A Clin. Mol. Teratol. 70:483-485(2004) · Mapped (6) |
| A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Tonkin E.T., Smith M., Eichhorn P., Jones S., Imamwerdi B., Lindsay S., Jackson M., Wang T.-J., Ireland M., Burn J. et al. Hum. Genet. 115:139-148(2004) · UniProtKB (2) |
| Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. Relton C.L., Wilding C.S., Pearce M.S., Laffling A.J., Jonas P.A., Lynch S.A., Tawn E.J., Burn J. J. Med. Genet. 41:256-260(2004) · Mapped (17) |
| Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Relton C.L., Wilding C.S., Laffling A.J., Jonas P.A., Burgess T., Binks K., Tawn E.J., Burn J. Mol. Genet. Metab. 81:273-281(2004) · Mapped (17) |
| Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Taylor C.F., Charlton R.S., Burn J., Sheridan E., Taylor G.R. |
| Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype. Relton C.L., Wilding C.S., Jonas P.A., Lynch S.A., Tawn E.J., Burn J. Clin. Genet. 64:424-428(2003) · Mapped (6) |
| Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Ewart-Toland A., Briassouli P., de Koning J.P., Mao J.H., Yuan J., Chan F., MacCarthy-Morrogh L., Ponder B.A., Nagase H., Burn J. et al. Nat. Genet. 34:403-412(2003) · Mapped (52) |
| Neuroferritinopathy in a French family with late onset dominant dystonia. Chinnery P.F., Curtis A.R., Fey C., Coulthard A., Crompton D., Curtis A., Lombes A., Burn J. J. Med. Genet. 40:e69-e69(2003) · Mapped (5) |