PubRank

S V Hodgson

Author PubWeight™ 104.36‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998 4.72
2 Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet 2005 4.12
3 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999 3.22
4 Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010 3.22
5 TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres. Gut 2011 2.75
6 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc Natl Acad Sci U S A 1998 2.27
7 Polyclonal origin of colonic adenomas in an XO/XY patient with FAP. Science 1996 2.22
8 Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet 1985 2.05
9 Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology 1997 1.96
10 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Am J Hum Genet 2001 1.81
11 Fanconi anaemia. J Med Genet 2003 1.70
12 Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled. Br J Surg 1997 1.66
13 Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. Hum Mol Genet 1996 1.57
14 Germline PTEN mutations in Cowden syndrome-like families. J Med Genet 1998 1.51
15 Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol 2004 1.51
16 Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res 1997 1.47
17 Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation. Genes Chromosomes Cancer 1998 1.43
18 Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis. Gut 1994 1.39
19 Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. J Med Genet 2006 1.39
20 Analysis of chromosomal instability in human colorectal adenomas with two mutational hits at APC. Proc Natl Acad Sci U S A 2002 1.36
21 The risk of subsequent primary cancers after colorectal cancer in southeast England. Gut 2002 1.34
22 Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 2000 1.34
23 Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer 2003 1.33
24 Variables associated with the risk of colorectal adenomas in asymptomatic patients with a family history of colorectal cancer. Gut 1995 1.33
25 Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? J Med Genet 1994 1.33
26 Incidence of multiple primary cancers in a cohort of women diagnosed with breast cancer in southeast England. Br J Cancer 2001 1.30
27 Juvenile polyposis. Br J Surg 1995 1.26
28 Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. Hum Genet 1987 1.23
29 A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet 1986 1.22
30 An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome. Am J Hum Genet 2003 1.21
31 Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. Gut 2002 1.17
32 A possible screening test for inherited p53-related defects based on the apoptotic response of peripheral blood lymphocytes to DNA damage. Br J Cancer 1995 1.17
33 Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. J Med Genet 1998 1.17
34 Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q. Am J Hum Genet 1996 1.09
35 Apoptosis, ageing and cancer susceptibility. Br J Cancer 2003 1.08
36 Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy. Br Med Bull 1989 1.06
37 Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. Hum Genet 1997 1.00
38 Analysis of the contribution of HLA genes to genetic predisposition in inflammatory bowel disease. Am J Hum Genet 1996 0.99
39 Family history and survival in premenopausal breast cancer. Br J Cancer 1998 0.99
40 Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. Gut 2004 0.97
41 Prenatal diagnosis of a double bisatellited marker with an unusual copy number ratio. Prenat Diagn 1990 0.97
42 The prevalence of a family history of cancer in general practice. Fam Pract 1995 0.96
43 Solitary juvenile polyps: not a marker for subsequent malignancy. Gastroenterology 1993 0.95
44 Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Leukemia 2004 0.94
45 Second primary cancers after cervical intraepithelial neoplasia III and invasive cervical cancer in Southeast England. Gynecol Oncol 2003 0.93
46 Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype. J Med Genet 2003 0.91
47 Attitudes to predictive DNA testing in familial adenomatous polyposis. J Med Genet 1996 0.90
48 Deletions in the 5' region of dystrophin and resulting phenotypes. J Med Genet 1994 0.90
49 A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: a novel class of supernumerary marker chromosome? Cytogenet Cell Genet 2001 0.90
50 Dominant transmission of Sprengel's shoulder and cleft palate. J Med Genet 1981 0.90
51 The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS). J Exp Clin Cancer Res 2002 0.90
52 Breast cancer and BRCA1 mutations. N Engl J Med 1996 0.89
53 Novel frameshift mutations in the RP2 gene and polymorphic variants. Hum Mutat 2000 0.89
54 A survey of phenotypic features in juvenile polyposis. J Med Genet 1998 0.89
55 Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility. Clin Genet 2004 0.88
56 Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families. J Med Genet 2005 0.88
57 Is colorectal surveillance indicated in patients with PTEN mutations? Colorectal Dis 2012 0.87
58 A study of genomic instability in early preneoplastic colonic lesions. Oncogene 2012 0.87
59 Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. J Med Genet 1996 0.87
60 Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII. Neuromuscul Disord 1992 0.86
61 DXS26 (HU16) is located in Xq21.1. Hum Genet 1990 0.86
62 Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome. J Med Genet 1995 0.86
63 19. Male breast cancer: aetiology, genetics and clinical management. Int J Clin Pract 2002 0.85
64 Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene? Fam Cancer 2001 0.85
65 p53 protein detected by immunohistochemical staining is not always mutant. Dis Markers 1993 0.85
66 A probable case of the homozygous condition of the aniridia gene. J Med Genet 1980 0.84
67 Cribriform variant papillary thyroid cancer: a characteristic of familial adenomatous polyposis. Thyroid 2001 0.83
68 The Johanson-Blizzard syndrome. J Med Genet 1982 0.83
69 Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease. Immunogenetics 2000 0.83
70 Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas. Gut 1997 0.82
71 Regional proliferative patterns in the colon of patients at risk for hereditary nonpolyposis colorectal cancer. Dis Colon Rectum 1997 0.82
72 Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor). Cancer 1992 0.81
73 Deletion of chromosome 3q proximal region gives rise to a variable phenotype. Clin Genet 1998 0.81
74 A de novo X;13 translocation with abnormal phenotype. J Med Genet 1986 0.80
75 Cancer risks in women with 2 breast or ovarian cancers: clues to genetic cancer susceptibility. Int J Cancer 2001 0.79
76 Molecular deletions in the Duchenne/Becker muscular dystrophy gene. Clin Genet 1989 0.79
77 Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. Brain 1997 0.78
78 Exceptions to the rule: individuals with FAP specific CHRPE and mutations in exon 6 of the APC gene. Clin Genet 1996 0.77
79 The radiology of Coffin-Lowry syndrome. Br J Radiol 1990 0.77
80 Familial adenomatous polyposis presenting with childhood desmoids. Lancet 1997 0.77
81 Early infant feeding and weight gain. J R Coll Gen Pract 1978 0.77
82 Hyperkalaemic cardiac arrest in a manifesting carrier of Duchenne muscular dystrophy following general anaesthesia. Eur J Pediatr 2001 0.77
83 The DCC gene and colorectal cancer: the story is more complex. Colorectal Dis 2008 0.75
84 Screening for breast cancer. Consider family history also. BMJ 1994 0.75
85 Deletions of the entire APC gene are associated with sessile colonic adenomas. J Med Genet 1994 0.75
86 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. Eur J Hum Genet 1999 0.75
87 Three cases of 16q duplication. J Med Genet 1991 0.75
88 Clinical features and molecular analysis of a family with multiple colon tumours and reduced plasminogen activator activity. Int J Colorectal Dis 1997 0.75
89 Management of familial adenomatous polyposis. Baillieres Clin Gastroenterol 1992 0.75
90 The effect of betamethasone valerate aerosol on exercise-induced asthma in children. Postgrad Med J 1974 0.75