John Burn

Q: What Schools Are Affiliated With John Burn

John Burn is affiliated with the following schools: University of Amsterdam, University of New South Wales, Imperial College London, University of Oxford, Newcastle University

John Burn 's AcademicInfluence.com Rankings

John Burn

Biology

#7539

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#10477

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Genetics

#741

World Rank

#833

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Molecular Biology

#1194

World Rank

#1220

Historical Rank

Biochemistry

#1346

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#1467

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Biology

John Burn 's Degrees

Bachelors Biochemistry University of Oxford

Why Is John Burn Influential?

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According to Wikipedia, Professor Sir John Burn is a British professor of Clinical Genetics at Newcastle University and senior leader in England's National Health Service. Education Burn was born and raised in the North East of England. He was educated at Barnard Castle Grammar School, and Newcastle University Medical School from 1976 to 1980 where he was awarded a Bachelor of Medical Sciences degree in 1973, a Bachelor of Medicine, Bachelor of Surgery in 1976 and a Doctor of Medicine degree in 1991.

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John Burn 's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Celecoxib for the prevention of sporadic colorectal adenomas. (2006) (1030)
Large-scale discovery of novel genetic causes of developmental disorders (2014) (908)
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial (2011) (826)
Cancer risk associated with germline DNA mismatch repair gene mutations. (1997) (702)
Identification of the familial cylindromatosis tumour-suppressor gene (2000) (683)
Aspirin and non-steroidal anti-inflammatory drugs for cancer prevention: an international consensus statement. (2009) (673)
Peutz–Jeghers syndrome: a systematic review and recommendations for management (2010) (662)
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts (2013) (656)
Guidelines for the clinical management of familial adenomatous polyposis (FAP) (2008) (635)
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) (2007) (539)
DiGeorge syndrome: part of CATCH 22. (1993) (490)
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease (2001) (485)
Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. (2000) (467)
X-linked situs abnormalities result from mutations in ZIC3 (1997) (416)
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database (2015) (389)
Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study (1998) (380)
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression (2010) (375)
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database (2017) (365)
European Code Against Cancer and scientific justification: third version (2003). (2003) (332)
Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human (2003) (328)
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus (1992) (303)
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis (1998) (293)
Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. (1994) (289)
Developmental genetics of the heart. (1996) (282)
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2019) (280)
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. (1993) (271)
Estimates of benefits and harms of prophylactic use of aspirin in the general population (2014) (270)
Aspirin in the Chemoprevention of Colorectal Neoplasia: An Overview (2011) (268)
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus (2000) (260)
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. (2003) (226)
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (1998) (224)
Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. (1995) (223)
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. (2003) (218)
Hereditary haemorrhagic telangiectasia: a clinical analysis. (1992) (217)
Autosomal dominant sacral agenesis: Currarino syndrome (2000) (211)
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. (2005) (198)
Preferential deletion of exons in Duchenne and Becker muscular dystrophies (1987) (198)
A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis (2011) (191)
Five-Year Efficacy and Safety Analysis of the Adenoma Prevention with Celecoxib Trial (2009) (190)
Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. (1996) (189)
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability (2000) (183)
Population based, prospective study of the care of women with epilepsy in pregnancy (2000) (183)
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. (1993) (181)
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. (2006) (179)
A federated ecosystem for sharing genomic, clinical data (2016) (177)
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non‐polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA (2003) (172)
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. (2008) (172)
Natural history of trisomy 18. (1996) (168)
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. (1992) (162)
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12–q13: evidence for its role as a tumour suppressor gene (1995) (152)
Deletions within chromosome 22q11 in familial congenital heart disease (1992) (152)
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. (1992) (151)
Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population (2004) (149)
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 (1995) (149)
Characterization of the supernumerary chromosome in cat eye syndrome. (1986) (147)
Behavioural phenotype of Cornelia de Lange syndrome (1999) (145)
HYPONATRAEMIA: MECHANISMS AND MANAGEMENT (1981) (142)
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial (2020) (141)
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects (2013) (135)
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 (2018) (131)
Twenty-year trends in prevalence and survival of Down syndrome (2008) (131)
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. (2012) (129)
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC) (2005) (126)
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. (2002) (125)
Mouse Model for Hereditary Hemorrhagic Telangiectasia Has a Generalized Vascular Abnormality (2003) (122)
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome (2019) (122)
Recommendations to improve identification of hereditary and familial colorectal cancer in Europe (2010) (121)
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database (2016) (120)
Susceptibility to spina bifida; an association study of five candidate genes (1998) (119)
Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox‐ independent mechanism (2006) (114)
Brachmann-de Lange syndrome. Delineation of the clinical phenotype. (1993) (113)
Methylenetetrahydrofolate reductase and neural tube defects (1996) (113)
Natural history of trisomy 13. (1994) (112)
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. (1991) (109)
Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. (1995) (105)
Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. (2004) (104)
Three molecular pathways model colorectal carcinogenesis in Lynch syndrome (2018) (103)
A prospective cytogenetic study of 36 cases of DiGeorge syndrome. (1992) (101)
Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X) (1995) (100)
Minimum prevalence of chromosome 22q11 deletions. (1994) (96)
DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. (1991) (96)
Fetal valproate syndrome: is there a recognisable phenotype? (1987) (95)
Congenital anomalies in twins. (1987) (94)
Disturbance of morphological laterality in humans. (1991) (94)
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. (2015) (91)
A descriptive study of UK cancer genetics services: an emerging clinical response to the new genetics (2001) (88)
Alagille syndrome and deletion of 20p. (1990) (87)
The femoral hypoplasia-unusual facies syndrome. (1984) (85)
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth (2007) (85)
Duchenne muscular dystrophy in one of monozygotic twin girls. (1986) (84)
Defects in the determination of left-right asymmetry. (1996) (81)
Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis. (1989) (77)
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations (2001) (74)
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. (1995) (72)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. (2007) (71)
Congenital heart disease in CHARGE association (1993) (70)
Direct oral anticoagulants versus warfarin: is new always better than the old? (2018) (70)
Genetic heterogeneity in hereditary haemorrhagic telangiectasia. (1994) (69)
Neuroferritinopathy: a window on the role of iron in neurodegeneration. (2002) (68)
Estimates of benefits and harms of prophylactic use of aspirin in the general population. (2015) (68)
Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. (2008) (68)
The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. (1996) (67)
Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome. (1994) (67)
Development of the Heart (2019) (67)
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. (1991) (66)
Congenital heart defects and twinning. (1984) (66)
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. (2020) (65)
Trigonocephaly and the Opitz C syndrome. (1985) (65)
Neuroferritinopathy in a French family with late onset dominant dystonia (2003) (65)
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (1997) (64)
Colonic crypt cell proliferation state assessed by whole crypt microdissection in sporadic neoplasia and familial adenomatous polyposis (2001) (64)
An Association Between Migrainous Aura and Hereditary Haemorrhagic Telangiectasia (1993) (62)
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 (2010) (62)
The influence of HLA genotype on the severity of COVID‐19 infection (2021) (60)
The Human Variome Project (2008) (59)
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation (2008) (58)
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. (1995) (58)
VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies? (1992) (58)
Intestinal tumorigenesis in the Apc1638N mouse treated with aspirin and resistant starch for up to 5 months. (1999) (57)
Cell kinetics and gene expression changes in colorectal cancer patients given resistant starch: a randomised controlled trial (2008) (57)
Second‐trimester pregnancy associated plasma protein‐A levels are reduced in Cornelia de Lange syndrome pregnancies (1999) (56)
Chemoprevention in Lynch syndrome (2013) (56)
Employment and advice regarding careers for adults with congenital heart disease (2005) (56)
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. (1993) (55)
Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like family (1998) (54)
Dysregulated TRK Signalling is a Therapeutic Target in CYLD Defective Tumours (2011) (53)
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. (2014) (53)
Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome) (1995) (53)
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13 (2000) (53)
Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. (1993) (52)
TGFBR1*6A may contribute to hereditary colorectal cancer. (2005) (52)
Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). (1986) (52)
Meckel syndrome: what are the minimum diagnostic criteria? (1994) (52)
Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype (2003) (51)
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 (2004) (50)
Spectrum of movement disorders in neuroferritinopathy (2005) (50)
Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. (1996) (49)
X-inactivation patterns in monozygotic and dizygotic female twins. (1996) (49)
Planning the Human Variome Project: The Spain report (2009) (48)
Neuroferritinopathy: a new inborn error of iron metabolism (2012) (47)
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. (1986) (47)
Closing time for CATCH22 (1999) (47)
Orofaciodigital syndrome with mesomelic limb shortening. (1984) (47)
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report (2017) (46)
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. (2009) (46)
All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health. (2015) (45)
A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome. (1986) (45)
The North Cumbria Community Genetics Project. (1998) (45)
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection (1986) (43)
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. (1995) (43)
Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach (2000) (43)
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 (2006) (42)
Genetics, inheritance and strategies for prevention in populations at high risk of colorectal cancer (CRC). (2013) (42)
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). (1995) (42)
10 Congenital anomalies in twins (1987) (41)
Transmission of Proteus syndrome from father to son? (1991) (41)
Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2. (2008) (41)
Brief clinical report: neural tube defects as an X-linked condition. (1984) (41)
Diet and cancer prevention: the Concerted Action Polyp Prevention (CAPP) Studies (1998) (40)
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. (2017) (40)
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation. (1992) (40)
How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010 (2010) (38)
The femoral hypoplasia-unusual facies syndrome. (1984) (37)
The protocol for a European double-blind trial of aspirin and resistant starch in familial adenomatous polyposis: the CAPP study. Concerted Action Polyposis Prevention. (1995) (35)
Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome? (1987) (35)
Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. (1997) (35)
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. (1996) (34)
Rapid resolution of tumoral calcinosis after renal transplantation. (1999) (34)
Fraser syndrome presenting as bilateral renal agenesis in three sibs (1982) (34)
Familial Cylindromatosis and Brooke‐Spiegler Syndrome: A Review of Current Therapeutic Approaches and the Surgical Challenges Posed by Two Affected Families (2009) (34)
Implications of extranodal spread in node positive breast cancer: a review of survival and local recurrence. (2001) (33)
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report (2019) (33)
Angelman (happy puppet) syndrome in a girl and her brother. (1987) (32)
Methionine synthase and neural tube defects. (1997) (32)
The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance (2020) (31)
Ectodermal dysplasias: a clinical and genetic study (1985) (30)
Colonic epithelial cell proliferation in hereditary non-polyposis colorectal cancer (1998) (30)
The role of aspirin in preventing colorectal cancer. (2016) (30)
Colonic fermentation of complex carbohydrates in patients with familial adenomatous polyposis. (1993) (29)
Williams syndrome. (1986) (29)
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). (1993) (29)
The Schinzel-Giedion syndrome. (1990) (29)
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes (2019) (28)
The Human Variome Project (2016) (28)
An investigation of folate-related genetic factors in the determination of birthweight. (2005) (28)
Genetic predictive testing for bowel cancer predisposition: the impact on the individual (1999) (28)
Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. (1991) (28)
A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? (1983) (28)
Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3′ APC mutation (1999) (27)
DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. (2004) (26)
A randomised comparison of UK genetic risk counselling services for familial cancer: psychosocial outcomes (2004) (26)
Syndrome of the month: DiGeorge Syndrome. Part of CATCH-22. (1993) (26)
Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis. (2020) (26)
Transition from cylindroma to spiradenoma in CYLD‐defective tumours is associated with reduced DKK2 expression (2011) (26)
PÆDIATRIC DAY-CASE SURGERY (1973) (25)
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer (2016) (25)
Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation (2009) (25)
Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns. (2002) (24)
Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers: a cost-effectiveness analysis. (2008) (24)
Role of a regional register for familial adenomatous polyposis: Experience in the Northern Region (1991) (24)
Midline facial defects with ocular colobomata. (1990) (24)
Aspirin-Induced Chemoprevention and Response Kinetics Are Enhanced by PIK3CA Mutations in Colorectal Cancer Cells (2017) (24)
Mutation in ferritin light chain causes dominant adult onset neurodegeneration (2001) (24)
Endoscopic screening and surgery for familial adenomatous polyposis: Dangerous delays (1997) (23)
Meeting report from the joint IARC–NCI international cancer seminar series: a focus on colorectal cancer (2019) (23)
Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom. (2004) (23)
The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome. (1997) (23)
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report (2019) (22)
Carrier Testing for Cystic Fibrosis: Knowledge and Attitudes within a Local Community (1992) (22)
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes (2002) (22)
Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD) (2018) (22)
Paediatric day-case surgery. (1973) (22)
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. (2021) (21)
Genetic counselling in hypomelanosis of Ito: case report and review (1988) (21)
Human mismatch repair genes and their association with hereditary non-polyposis colon cancer. (1994) (21)
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb. (1994) (21)
THE CLINICAL SIGNIFICANCE OF 22Q11 DELETION (1995) (21)
Can resistant starch and/or aspirin prevent the development of coloi neoplasia? The Concerted Action Polyp Prevention (CAPP) 1 Study (2003) (20)
The establishment of a polyposis register (1993) (20)
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. (2021) (20)
Association of less common cystic fibrosis mutations with a mild phenotype. (1991) (20)
A CASE OF ‘ESSENTIAL’ HYPERNATRAEMIA DUE TO RESETTING OF THE OSMOSTAT (1985) (19)
Cornelia de Lange syndrome--photo essay. (1993) (19)
Connexin43 mutations in sporadic and familial defects of laterality. (1995) (19)
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. (1991) (19)
How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies (2021) (19)
New dysmorphic syndrome with choanal atresia in siblings. (1992) (19)
Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome (1983) (18)
Structure of the Human MLH 1 Locus and Analysis of a Large Hereditary Nonpolyposis Colorectal Carcinoma Kindred for mihi Mutations ' (2006) (18)
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (2020) (18)
Urgent improvements needed to diagnose and manage Lynch syndrome (2017) (18)
Cranial hemihypertrophy and neurodevelopmental prognosis. (1990) (18)
An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1 (2002) (17)
Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. (1986) (17)
Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations (2018) (17)
Lynch Syndrome: History, Causes, Diagnosis, Treatment and Prevention (CAPP2 Trial) (2012) (16)
Agnathia-holoprosencephaly: a new recessive syndrome? (1993) (16)
Should we sequence everyone’s genome? Yes (2013) (16)
MLH1 Differential Allelic Expression in Mutation Carriers and Controls (2010) (16)
Mutation (variation) databases and registries: a rationale for coordination of efforts (2011) (16)
Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010 (2011) (16)
May spina bifida result from an X-linked defect in a selective abortion mechanism? (1979) (16)
A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male. (1990) (16)
Partial trisomy 20p resulting from a recombination of a familial pericentric inversion (1986) (16)
Guidelines for the clinical management of Lynch (2007) (16)
Human embryo use in developmental research (1995) (16)
High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers (2008) (15)
Clinical impact of colonoscopic screening in first‐degree relatives of patients with hereditary non‐polyposis colorectal cancer (1995) (15)
A male with type I orofaciodigital syndrome. (1991) (15)
Meiotic and sperm chromosome analysis in a male carrier of an inverted insertion (3;10)(q13.2;p14p13). (1992) (15)
The different immune profiles of normal colonic mucosa in cancer-free Lynch syndrome carriers and Lynch syndrome colorectal cancer patients (2021) (15)
Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib (2018) (15)
Familial adenomatous polyposis. (1994) (14)
Hereditary non-polyposis colorectal cancer (1998) (14)
Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics (2019) (14)
CHILD + ILVEN = PEN or PENCIL. (1990) (14)
Maternal serum screening for Down's syndrome: a survey of midwives' views. (1997) (14)
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. (1990) (14)
Adult‐onset motor neuron disease and infantile Werdnig‐Hoffmann disease (spinal muscular atrophy type 1) in the same family (1992) (14)
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 (2018) (14)
The genetic background of familial adenomatous polyposis. Linkage analysis, the APC gene identification and mutation screening. (1995) (13)
Germline rearrangement of MCC and APC detected by pulsed field gel electrophoresis and fluorescent in situ hybridization (1993) (13)
Huntington's chorea arising as a fresh mutation. (1983) (13)
The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting (2021) (13)
BEER DRINKING AND HYPONATRAEMIA (1981) (13)
Molecular genetic tests in surgical management of familial adenomatous polyposis (1998) (12)
General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey (2016) (12)
Company profile: QuantuMDx group limited. (2013) (12)
Recessively inherited brachydactyly type C (1983) (12)
Meeting report from the joint IARC-NCI international cancer seminar series: a focus on colorectal cancer. (2019) (12)
X chromosome inactivation pattern in BRCA gene mutation carriers. (2013) (12)
Scoliosis in Association With Infantile Hypophosphatasia: A Case Study in Two Siblings (2005) (12)
The New Genetics and Clinical Practice , 2nd edn. By D. J. Weatherall Pp. 206. (Oxford Medical Publications, 1985.) £7.50. (1987) (11)
A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome (1983) (11)
Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families. (1991) (11)
Screening for cystic fibrosis in primary care. (1993) (11)
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study (2021) (11)
Audit of Maternal Serum Screening: Strategies to Augment Counselling in Response to Women’s Views (1996) (11)
Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours. (2013) (11)
Histological detection of microadenomas in the diagnosis of familial adenomatous polyposis (1991) (11)
Frequency and predictive value of 22q11 deletion (1999) (11)
Four novel germ-line mutations in the APC gene detected by heteroduplex analysis. (1994) (11)
Co‐dominant Inheritance of Hyperekplexia and Spastic Paraparesis (1996) (10)
Human variome project country nodes: Documenting genetic information within a country (2012) (10)
Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up (2022) (10)
Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers. A cost-effectiveness analysis (2008) (10)
Molecular genetic tests in surgical management of familial adenomatous polyposis (1997) (10)
Alu in Lynch Syndrome: A Danger SINE? (2011) (10)
Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. (1986) (10)
6000 Aspirin prevents cancer in Lynch syndrome (2009) (9)
Autosomal dominant transmission of Pallister‐Hall syndrome (1994) (9)
Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings. (1991) (9)
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report (2021) (9)
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance (2019) (9)
Results of the CAPP1 Study: aspirin and resistant starch are beneficial in familial adenomatous polyposis (2003) (8)
Population screening in cystic fibrosis. (1993) (8)
Strategies for antenatal detection of Down’s syndrome (1997) (8)
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1 (2020) (8)
Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay ‐ a new autosomal dominant disorder? (1997) (8)
Effect of anti-epileptic drugs on intrauterine growth (2000) (7)
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium (2022) (7)
Xp21 DNA PROBE IN DIAGNOSIS OF MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY (1989) (7)
Terathanasia, folic acid, and birth defects (1997) (7)
Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemic (2020) (7)
Nutrition in cancer prevention. (1999) (7)
Aspirin: 120 years of innovation. A report from the 2017 Scientific Conference of the International Aspirin Foundation, 14 September 2017, Charité, Berlin (2018) (7)
Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? (2018) (6)
Individual variation in somatic mutations of the glycophorin-A gene in neonates in relation to pre-natal factors. (2000) (6)
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 (2017) (6)
Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. (1988) (6)
Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11 (2004) (6)
DNA TYPING TO AVOID NEED FOR PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS (1986) (6)
Isomerism: A Genetic Analysis (1986) (5)
Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy (2010) (5)
Fanconi Anaemia: Clinical, Cytogenetic and Experimental Aspects (1991) (5)
Are there socio-economic inequalities in age of resection of colorectal cancer in people with HNPCC? (2004) (5)
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (2020) (5)
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission (2019) (5)
Editorial Note: The face and immune system in tetralogy of Fallot (1989) (5)
IS MONOSOMY FOR THE DIGEORGE LOCUS ON CHROMOSOME-22 RESPONSIBLE FOR ISOLATED HEART MALFORMATIONS (1991) (5)
Design and staffing of an intensive care unit. (1970) (5)
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress (2020) (5)
Congenital heart defects--the risks to offspring. (1983) (4)
Susceptibility markers in colorectal cancer. (2001) (4)
THE INFLUENCE OF HLA GENOTYPE ON SUSCEPTIBILITY TO, AND SEVERITY OF, COVID-19 INFECTION (2021) (4)
Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene. (1989) (4)
The Technical Background of Familial Adenomatous Polyposis - History, Epidemiology, Diagnosis and Treatment (1995) (4)
‘The next lady has a heart defect’ (1987) (4)
Preoperative anaesthetic assessment clinic. (1974) (4)
An avoidable recurrence of cri du chat syndrome in the next generation. (1983) (4)
Genetic advances in paediatric cardiology (1988) (4)
Assessing cancer risk. (2004) (4)
Filaggrin mutations in atopic eczema: genotype-phenotype correlation (2008) (3)
A novel FTL insertion causing neuroferritinopathy (2010) (3)
A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 (2001) (3)
The poor patient with diabetes ‘should live like a saint’ (2016) (3)
Puppetry: Improving the Self-Concept of the Exceptional Child. (1977) (3)
Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis. (1999) (3)
The clinical [corrected] background of familial adenomatous polyposis. History, epidemiology, diagnosis and treatment. (1995) (3)
Editorial note The genetics of hypertrophic cardiomyopathy (1985) (3)
Erratum: Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics (European Journal of Human Genetics) (2008) vol. 16 (405-411) 10.1038/sj.ejhg.5201929) (2008) (3)
Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016 (2019) (3)
Colon cancer and Salicylates (2016) (3)
MOLECULAR STUDIES OF MONOSOMY-22Q11 AND ITS CLINICAL CONSEQUENCES (1991) (3)
The effects of insulin glucose administration in fulminant hepatic failure (1978) (2)
Weight gain between dialyses in diabetics. (1980) (2)
SARCOMA OUTCOMES – HAVE THEY CHANGED? (2002) (2)
Is HLA type a possible cancer risk modifier in Lynch syndrome? (2022) (2)
CATCH-22 - CAN MOLECULAR GENETICS EXPLAIN THE PHENOTYPE (1995) (2)
Calibration of a Single-Cell Calorimeter in a New Transient-state Test Bench (2020) (2)
Genetic risks for children of women with myotonic dystrophy. (1992) (2)
‘Malignant’ congenital cardiovascular disease in twins with William's syndrome (1993) (2)
S25. Results of the CAPP-2-trial (Aspirin and resistant starch) in HNPCC gene carriers (2008) (2)
Shapes of Things to Come (2021) (2)
UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype. (2000) (2)
Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency. (2022) (2)
RE: Correspondence from Wieczorek & Gillessen‐Kaesbach and Hing & Parisi (2006) (2)
Point of care testing for improving risk- benefit ratio of aspirin and warfarin (2014) (2)
An MLH 1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH 1 (2002) (2)
Three decades of the Human Genome Organization (2021) (2)
Cancer 2025: Assessing cancer risk (2004) (2)
Incorporating calibrated functional assay data into the BRCA1 Ex-UV database (2016) (2)
Mutation detection in exons 1-14 of the adenomatous polyposis coli gene: identification of an alternatively spliced transcript. (1996) (2)
Discovery of structure of DNA: the best is yet to come (2007) (1)
Huntington's chorea arising asafresh mutation (1983) (1)
Inheritance of Marfan's syndrome. (1978) (1)
Comparison of neonatal management methods for very low-birth weight babies (1981) (1)
Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing (2021) (1)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) (1)
Detection of Microsatellite Instability in Colonoscopic Biopsies and Postal Urine Samples from Lynch Syndrome Cancer Patients Using a Multiplex PCR Assay (2022) (1)
Can a cell have a soul? (2008) (1)
Unravelling cylindromas: insights into appendageal tumour patterning from patients with truncating CYLD mutations (2010) (1)
Primidone teratogenicity or Noonan syndrome? (1982) (1)
Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia (2022) (1)
The current status of chemoprevention in FAP: Commentary (2006) (1)
maternal origin . defect in three sibs with a 22 q 11 deletion of coarctation and isolated ventricular septal DiGeorge syndrome with isolated aortic (2004) (1)
Comparison of neonatal management methods for very low birthweight babies (1981) (1)
Folate status and genetic selection (2005) (1)
Aalborg Universitet Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by overdiagnosis ; A prospective Lynch syndrome database report (2019) (1)
Bowel cancer chemoprevention - ready for the clinic? (2012) (1)
CHAPTER 9 – Aetiology of Congenital Cardiac Disease (2010) (1)
Dysregulated tropomyosin receptor kinase signalling in CYLDtrunc/trunc tumours (2010) (1)
Clinical Genetics: A Review (1988) (1)
Familial adenomatous polyposis: heterogeneity? (1994) (1)
Neuroferritinopathy: iron in the brain (2014) (1)
Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome‐associated tumours’ (2022) (1)
International cancer seminars:a focus on colorectal cancer (2019) (1)
"Pseudonormonatraemia". (1979) (1)
Isolation of a transcription factor expressed in neural crest from the region of 22q11 deleted in DiGeorge syndrome. (1994) (1)
Recognition of clinical genetics in Europe (2017) (1)
Abstracts: 48th Annual Conference of the American College of Veterinary Ophthalmologists, Baltimore, MD October 11‐14, 2017 (2017) (1)
An unusual gait following the discovery of a new disease (2011) (1)
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report (2017) (1)
Relevance of the Human Genome Project to inherited metabolic disease (1994) (1)
Survey of HNPCC Management Analysis of Responses from 18 International Cancer Centres (2005) (1)
Screening for cystic fibrosis. Screening in primary care is preferable. (1994) (1)
Genetic testing and research in Lynch Syndrome - is it a choice or a responsibility? (2011) (1)
adenomatous polyposis (FAP) Guidelines for the clinical management of familial (2008) (1)
TERATHANASIA, FOLIC ACID, AND BIRTH DEFECTS. AUTHOR'S REPLY (1997) (1)
A genetic journey through cancer: from rarity and family to aspirin and nanowires (2012) (1)
syndrome (hereditary non-polyposis cancer) Guidelines for the clinical management of Lynch (2007) (1)
Late abortions and the law (1988) (1)
Diagnostic analysis of Norwegian BRCA mutations using Sequenom MALDI TOF mass spectrometry (2009) (0)
Harveian Oration 2019: Prediction and prevention in the genomic era. (2020) (0)
Abstract A09: A next generation sequencing based microsatellite instability assay suitable for routine risk stratification in colorectal cancer (2017) (0)
Germline rearrangement at the APC locus detected by PFGE (1992) (0)
Characterisation of a novel neuroferritinopathy mutation in a French family (2008) (0)
A pragmatic solution to data exchange between NHS regional molecular genetics laboratories: L2L (2005) (0)
Cardiovascular malformation : an analysis of genetic contribution. (1991) (0)
[Familial Polyposis-coli - Molecular-biology and Practical Attitude Regarding the Family Affected] (1995) (0)
Two novel CYLD mutations associated with Brooke-Spiegler syndrome (2009) (0)
Mutation in ferritin light chain causes dominant adult onset basal ganglia disease (2001) (0)
The long term impact of resistant starch on cancer risk in carriers of hereditary colorectal cancer:the CAPP2 Randomised Controlled Trial (2012) (0)
[DECEPTIVE RADIO-CLINICAL ASPECTS OF PULMONARY HYDATIDOSIS. II. PSEUDOTUBERCULOUS FORMS. C. A FORM ASSOCIATED WITH TUBERCULOSIS]. (1964) (0)
Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD) (2018) (0)
CAPP2: A RANDOMIZED CONTROLLED TRIAL (RCT) OF ASPIRIN & RESISTANT STARCH IN HEREDITARY NON POLYPOSIS COLORECTAL CANCER (2001) (0)
Advances in the development of new therapies for CYLD mutation carriers Targeting Trk (2010) (0)
Cranial MRI appearances in neuroferritinopathy (2004) (0)
Smith Lemli Opitz syndrome: a variable phenotype caused by 7 dehydro cholesterol reductase deficiency. (1997) (0)
A novel autosomal dominant basal ganglia degeneration with cavitation on 19q can mimic Parkinson's disease and Huntington's disease (2000) (0)
[abstract] Specific issues in colon cancer (2005) (0)
Chemoprevention (2011) (0)
Double Blind Randomised Placebo Controlled Trial Of Cancer Prevention With Aspirin In Hereditary Colorectal Cancer (Lynch Syndrome): Planned 10 Year Follow-Up And Registry Based 20 Year Data In The CAPP2 Study (2020) (0)
C M E Cardiology - I I (1999) (0)
Colorectal cancer incidence in path _ MLH 1 carriers subjected to different follow-up protocols (2017) (0)
A molecular inversion probe and sequencing-based microsatellite instability assay for high throughput cancer diagnostics and Lynch syndrome screening (2018) (0)
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer (0)
Association of less cornmon cystic fibrosis mutations with a mild phenotypec (0)
Isolation ofa new markerandconserved sequences close totheDiGeorge syndrome markerHP500(D22S134) (1993) (0)
Correction to: Letter to the Editor—Recent advances in Lynch syndrome (2021) (0)
phenotype . fibrosis mutations with a mild Association of less common cystic (0)
Delayed puberty (1985) (0)
adenomatous polyposis . carbohydrates in patients with familial Colonic fermentation of complex (2006) (0)
Abstract PL05-03: Progress towards routine use of aspirin by people at increased risk of cancer (2013) (0)
U.S. weapons-grade plutonium disposition in commercial nuclear power plants (1994) (0)
QuantuMDx Group Limited (2013) (0)
A genetic journey through cancer: from rarity and family to aspirin and nanowires (2012) (0)
BOOK REVIEW (2002) (0)
How Diary / Memoir / Poet Jane Compares With Social Media Jane (2022) (0)
A modified Ahmed glaucoma implant for shunting aqueous humor to the ocular surface in a dog with secondary glaucoma post-phacoemulsification – case report and proof of concept (2017) (0)
Abstracts from the 6th international conference on the Engineering of Sport, 10–14 July 2006, Olympic Hall, Munich, Germany (2006) (0)
124 Cerebral Infarction Following Intra-arterial Isobutyl-Cyanoacrylate Occlusion of the Intracranial Internal Carotid Artery in Cats: A New Experimental Stroke Model (1985) (0)
The role of endoglin in cardiovascular development (2003) (0)
British Society for Investigative Dermatology Annual Meeting 4th – 6th April 2022 Frederick Douglass Centre, Newcastle University, Newcastle Upon Tyne (2022) (0)
Progress towards developing a mouse model of Hereditary Haemorrhagic Telangiectasia (1999) (0)
Neuroferritinopathy. (2020) (0)
家族性円柱腫、Brooke‐Spiegler症候群および複数の家族性毛包上皮腫:突然変異が腫瘍発生に影響する可能性のあることを示唆するCYLDが変異した26例の患者の腫瘍マッピング (2008) (0)
Cardiac impairment or heart failure, and natriuretic peptides. (2017) (0)
Bowel cancer prevention: Aspirin induces Cox-2 independent endothelial cell apoptosis facilitating angiogenesis arrest (2004) (0)
Invited Commentary (2005) (0)
Neuroferritinopathy: a new inborn error of iron metabolism (2012) (0)
Point of care testing for improving risk- benefit ratio of aspirin and warfarin (2014) (0)
The Second Manchester Birth Defects Conference, 1 to 3 October 1986 (1987) (0)
Folic acid — changes in women's knowledge (2003) (0)
RNF135, a gene within the 17q11 NF1-microdeletion region, is responsible for a new autosomal dominant overgrowth syndrome with reduced penetrance (2007) (0)
Familial cylindromatosis, Brooke-Spiegler syndrome and multiple famililal trichoepithiliomas: Tumour mapping of 26 patients with CYLD mutations suggest androgen stimulation may play a role in tumourigenesis (2008) (0)
C Modulation of anril expression may mediate the association between chromosome 9p21 variants and coronary atherosclerosis risk (2010) (0)
Preventive Cardiology: Butterworths International Medical Reviews, Cardiology 2 (1985) (0)
Selected Abstracts from the 3rd European Hereditary Tumour Group Meeting (EHTG 2018) (2019) (0)
Alison's Story--A Cautionary Tale in the Age of Genomic Medicine. (2015) (0)
Germ LineMutations of Mismatch Repair Genes in Hereditary Nonpolyposis Colorectal Cancer Patients with Small Bowel Cancer : International Society for Gastrointestinal HereditaryTumours Collaborative Study (2006) (0)
marker HP 500 ( D 22 S 134 ) . sequences close to the DiGeorge syndrome Isolation of a new marker and conserved (0)
Detection of genetic tumour predisposition syndromes using electronic health records (2020) (0)
DNA markers in risk calculations . retinal pigment epithelium , and congenital hypertrophy of the polyposis coli : use of age of onset , register for familial adenomatous The UK Northern region genetic (2004) (0)
Mismatch repair deficient cancers diagnosis, treatment and prevention (2014) (0)
Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer? (2018) (0)
Did neuroferritinopathy originate in France (2002) (0)
Human Prenatal Diagnosis (1986) (0)
MODERN GENETICS AND NEUROMUSCULAR DISORDERS (1987) (0)
Clinicopathological Cases (2018) (0)
Morality and Genetic Testing - Are test decliners at risk of becoming a new "genetic underclass"? (2012) (0)
Resistant starch and aspirin in genetically predisposed people: The CAPP studies (2004) (0)
018 Neuroferritinopathy: a new finding in a novel disease (2012) (0)
PTU-050 The successful implementation of fast-track routine testing for microsatellite instability in a colorectal cancer pathway (2018) (0)
Late abortions and the law [letter] (1988) (0)
Exclusion ofcalcitonin as a candidate gene forthe basic defect ina family withautosomal dominant supravalvular aortic stenosis (1988) (0)
University of Dundee Interaction between polymorphisms in aspirin metabolic pathways , regular aspirin use and colorectal cancer (2018) (0)
TENTATIVE LOCALIZATION OF THE GENE RESPONSIBLE FOR HYPERTROPHIC CARDIOMYOPATHY (1988) (0)
Affordable diagnosis and prevention of genetic disease (2014) (0)
Early experiences in amplicon sequencing using the Roche GS-FLX massively parallel DNA sequencer and its application within a diagnostic laboratory (2008) (0)
Neuroferritinopathy: Genetics, clinical features, MR imaging, and neuropathology (2005) (0)
Channel 4 film: White Men Can’t Run (2011) (0)
Human Clones: Which Side Are You On? (2001) (0)
The genetic basis of heart malformation. (1994) (0)
Effect of maternal diazepam on the newborn. (1978) (0)
The North Cumbria Community Genetics Project - Public support for a DNA bank (2001) (0)
Familial adenomatous polyposis as a model of sporadic colorectal carcinoma (1993) (0)
Dysregulated tropomyosin receptor kinase (Trk) signalling in CYLD mutant tumours (2010) (0)
Chemoprevention for Lynch patients. (2017) (0)
General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey (2017) (0)
CAPP2: a randomised chemoprevention trial of aspirin and resistant starch in Lynch Syndrome (2007) (0)
Clinical genetics. (1983) (0)
Concerted action polyp prevention: A trial of aspirin and or resistant starch in people at risk of hereditary colon cancer (1999) (0)
Patenting genes: a dangerous EU directive (2000) (0)
Some germ-line mutations in mismatch repair genes in HNPCC patients may confer an increased risk for additional germline defects (2002) (0)
The British Familial Cancer Record (BFCR): A model for clinical research into familial cancer. (2003) (0)
Chemoprevention in Lynch syndrome (2013) (0)
46Stroke and bleed events in patients with non-valvular atrial fibrillation on direct oral anticoagulants: a retrospective study across 200 clinical commissioning groups in NHS England from 2013 to 2016 (2018) (0)
Modulation of ANRIL Expression is a Possible Mechanism Mediating the Association Between Chromosome 9p21 Polymorphisms and Coronary Atherosclerosis Risk (2009) (0)
Genetic analysis of adenoma progression in patients with adenomatous polyposis coli. (1991) (0)
mlh1 Mutations Hereditary Nonpolyposis Colorectal Carcinoma Kindred for Locus and Analysis of a Large MLH1 Structure of the Human (2006) (0)
P26 MODULATION OF ANRIL EXPRESSION MAY MEDIATE THE ASSOCIATION OF CHROMOSOME 9P21 VARIANTS WITH CORONARY ARTERY DISEASE AND STROKE (2010) (0)
Genetics: Human Aspects (1982) (0)
Altered allele expression in hereditary nonpolyosis colon cancer (HNPCC) patients with nonsense mutations in the Mut L homologue (MLH1) gene. (2005) (0)
Angelman(happy puppet)syndromeina girl andherbrother (1987) (0)
Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: A cautionary tale (2006) (0)
Non steroidal anti-inflammatory drugs and colorectal cancer prevention: Evidence for a cox-2 independent anti-angiogenic effect (2003) (0)
Loss of organisation in CYLD defective tumours is associated with diminished DKK2 expression. (2013) (0)
Clinical expert letter:: Improving the identification and management of Lynch syndrome in the UK (2017) (0)
Personalised Approach to Anticoagulation (2016) (0)
Case report. Maternal serum screening: a team approach (1997) (0)
Motivation to attend familial cancer genetics centres for advice about a family history of cancer: The PACT psychosocial study. (2003) (0)
Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018. (2023) (0)
Orofaciodigital syndrome withmesomelic limb shortening (1984) (0)
Could aspirin reverse increased cancer risk in overweight people (2015) (0)
Correspondence (1988) (0)
Harnessing national pan-laboratory data for accurate quantitation of PS4 in cancer susceptibility genes: Cancer Variant Interpretation Group UK (CanVIG-UK) (2021) (0)
201 Targeting tropomyosin receptor kinase (TRK) in CYLD defective tumours: A placebo-controlled early phase trial with pegcantratinib (2017) (0)
Corrigenda: Germline rearrangement of MCC and APC detected by pulsed field gel electrophoresis and fluorescent in situ hybridization (Annals of Human Genetics (1993) 57 (169-178)) (1993) (0)
mlh 1 Mutations Hereditary Nonpolyposis Colorectal Carcinoma Kindred for Locus and Analysis of a Large MLH 1 Structure of the Human Updated (2006) (0)
Does aspirin really reduce the risk of colon cancer? – Authors' reply (2012) (0)
CAPP2 RCT: Resistant Starch Planned Long-term Follow-up-Reply. (2023) (0)
Book Review: Preventive Cardiology (1985) (0)
A giant gone encoding a developmentally regulated novel member of the M28 peptidase family is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 (2003) (0)
IDENTIFICATION OF INTERSTITIAL 22Q11 DELETIONS IN CONTRUNCAL ANOMALY FACE SYNDROME (1994) (0)
Letter to the Editor-Recent advances in Lynch syndrome (2020) (0)
O35 Screening for lynch syndrome in cases of colorectal cancer: identifying barriers in a fast-track pathway (2022) (0)
Subject Index Vol. 30, Suppl. 2, 2012 (2012) (0)
Abstract B39: Aspirin modifies immune cell infiltration of the colonic mucosa in Lynch syndrome: a possible mechanism for cancer prevention (2015) (0)
Mismatch repair deficiency testing in Lynch syndrome-associated urothelial tumors (2023) (0)
A screening assay for BRCA1 and BRCA2 mutations based on nonsense mediated decay (2009) (0)
John Burn: Pet hate is risk averse bureaucracy (2013) (0)
Genetics and birth defects in clinical practice: M. Feingold and H. Pashayan Little, Brown & Co., (Boston), 1983; 280 pp.; £31 (1984) (0)

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