John Burn
Burn, John, MD, MRCP
VIAF ID: 55834957 (Personal)
Permalink: http://viaf.org/viaf/55834957
Preferred Forms
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100 1 _
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Burn, John,
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MD, MRCP
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100 1 _ ‡a Burn, John, ‡c MD, MRCP
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John Burn
4xx's: Alternate Name Forms (4)
Works
| Title | Sources |
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| The Gemini inheritance [VR] c1990: |
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| Harveian Oration and dinner : prediction and prevention in the genomic era, 2019: |
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| Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families |
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| Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial |
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| Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy |
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| Lynch syndrome: history, causes, diagnosis, treatment and prevention (CAPP2 trial). |
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| Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemic |
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| The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome |
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| Maternal serum screening for Down's syndrome: a survey of midwives' views |
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| May spina bifida result from an X-linked defect in a selective abortion mechanism? |
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| Meckel syndrome: what are the minimum diagnostic criteria? |
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| Medical directory, 1992: |
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| Methylenetetrahydrofolate reductase and neural tube defects |
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| MLH1 Differential Allelic Expression in Mutation Carriers and Controls |
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| An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1 |
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| Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC) |
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| Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome |
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| Monozygotic twins with chromosome 22q11 deletion and discordant phenotype |
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| Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality |
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| Mutation detection in exons 1-14 of the adenomatous polyposis coli gene: identification of an alternatively spliced transcript. |
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| Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease |
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| Mutation (variation) databases and registries: a rationale for coordination of efforts |
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| Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth |
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| Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus |
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| Neural tube defects as an X-linked condition |
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| Neuroferritinopathy: a window on the role of iron in neurodegeneration. |
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| Neuroferritinopathy in a French family with late onset dominant dystonia |
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| Neuropathological and biochemical investigation of Hereditary Ferritinopathycases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress |
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| New dysmorphic syndrome with choanal atresia in siblings |
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| No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study |
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| The North Cumbria Community Genetics Project |
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| A novel FTL insertion causing neuroferritinopathy |
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| A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours |
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| Peutz-Jeghers syndrome: a systematic review and recommendations for management |
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| Planning the human variome project: the Spain report. |
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| Point of care testing for improving risk- benefit ratio of aspirin and warfarin |
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| Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns |
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| The poor patient with diabetes ‘should live like a saint’ |
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| Population based, prospective study of the care of women with epilepsy in pregnancy |
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| Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene. |
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| Population screening in cystic fibrosis |
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| PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28 |
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| Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. |
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| Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2. |
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| Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation |
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| Primidone teratogenicity or noonan syndrome? |
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| Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers: a cost-effectiveness analysis |
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| The protocol for a european double-blind trial of aspirin and resistant starch in familial adenomatous polyposis: The capp study |
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| RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies |
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| A randomised comparison of UK genetic risk counselling services for familial cancer: psychosocial outcomes. |
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| RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi |
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| Recognition of clinical genetics in Europe |
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| Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. |
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| Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. |
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| Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes |
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| Relevance of the Human Genome Project to inherited metabolic disease |
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| Reply to Burn and Sheth |
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| Reply to Howlett and Mortimer |
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| The role of aspirin in preventing colorectal cancer |
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| Scoliosis in association with infantile hypophosphatasia: a case study in two siblings |
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| A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes |
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| Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics |
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| Should we sequence everyone's genome? Yes. |
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| Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype |
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| Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome? |
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| Spectrum of movement disorders in neuroferritinopathy |
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| Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. |
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| Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanism |
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| Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom |
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| Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects |
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| Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression |
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| Tropomyosin Receptor Antagonism in Cylindromatosis (TRAC), an early phase trial of a topical tropomyosin kinase inhibitor as a treatment for inherited CYLD defective skin tumours: study protocol for a randomised controlled trial |
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| Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction |
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| UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype |
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| The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations |
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| The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance |
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| An unusual gait following the discovery of a new disease |
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| Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report |
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| Urgent improvements needed to diagnose and manage Lynch syndrome. |
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| Williams syndrome |
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| Xp21 DNA PROBE IN DIAGNOSIS OF MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY |
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| চিঠিপত্র |
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