Genomes and Genes
R J Scott
Affiliation: New South Wales
- Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patientsR J Scott
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW, Australia
Clin Genet 62:282-7. 2002..The most likely explanation is either the presence of another susceptibility gene or genetic mosaicism in the non-familial patients...
- Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindredsR J Scott
Discipline of Medical Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton, New South Wales, Australia
Am J Hum Genet 68:118-127. 2001....
- Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneityR J Scott
Hunter Area Pathology Service, Locked Bag No 1, Hunter Regional Mail Centre, Newcastle NSW 2310, Australia
Gut 48:508-14. 2001..Evaluation of the disease characteristics of these patients and their families is presented which may aid in the identification of new genes associated with colonic polyposis...
- Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?R E Vilain
Hunter Area Pathology Service, Hunter New England Health Service, Newcastle, NSW, Australia
Clin Genet 79:554-60. 2011..Our case report conclusively expands the clinical spectrum of familial GISTs and shows a hitherto unrecognized link to WS. Possible mechanisms responsible for this novel cause of WS2F will be discussed...
- Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutationsE Thompson
Discipline of Medical Genetics, Faculty of Health, University of Newcastle and Hunter Medical Research Institute, Newcastle, NSW, Australia
Clin Genet 65:215-25. 2004..Mutations in hPMS2 appear to account for a small proportion of families adhering to the Amsterdam II criteria, whereas hEXO1 does not appear to be associated with HNPCC...
- A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technologyB A Talseth-Palmer
Faculty of Health, School of Biomedical Sciences, University of Newcastle and the Hunter Medical Research Institute, Newcastle, NSW, Australia
Cytogenet Genome Res 124:94-101. 2009..The results of this study suggest that it may be desirable to investigate idiopathic mental retardation using genome-wide SNP arrays, in conjunction with other cytogenetic and molecular techniques...
- The -149C>T SNP within the DeltaDNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancerS G Reeves
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, The Hunter Medical Research Institute, NSW, Australia
Cancer Lett 265:39-44. 2008..Through the statistical tests of Kaplan-Meier survival analysis and Cox hazard regression models we did not observe any significant association between the DeltaDNMT3B C>T SNP and early onset CRC in HNPCC patients...
- Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysisT Dudding
Hunter Genetics, Hunter New England Health Service, NSW, Australia
J Thromb Haemost 6:1869-75. 2008..These results, however, are conflicting...
- Differential gene expression and cytokine production from neutrophils in asthma phenotypesK J Baines
Level 3, Hunter Medical Research Institute, John Hunter Hospital, Locked Bag 1, Hunter Region Mail Centre, Newcastle, NSW 2310, Australia
Eur Respir J 35:522-31. 2010..The mechanisms of non-eosinophilic asthma may involve enhancement of blood neutrophil chemotaxis and survival...
- Estrogen receptor polymorphisms and the risk of endometrial cancerK A Ashton
Discipline of Medical Genetics, School of Biomedical Sciences, Faculty of Health, University of Newcastle and the Hunter Medical Research Institute, Newcastle, NSW, Australia
BJOG 116:1053-61. 2009....
- Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cellsE Gardiner
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia
Mol Psychiatry 17:827-40. 2012..This pattern of differentially expressed miRNA in PBMCs may be indicative of significant underlying genetic or epigenetic alteration associated with schizophrenia...
- An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locusE Chow
Royal Melbourne Hospital, Parkville, Victoria, Australia
Clin Genet 70:409-14. 2006....
- Common variants of DNA repair genes and malignant melanomaT Debniak
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
Eur J Cancer 44:110-4. 2008..In conclusion, we report an increased melanoma risk among carriers of the N991D change of the BRCA2 and no association of the CHEK2 changes with malignant melanoma...
- STK11 status and intussusception risk in Peutz-Jeghers syndromeN Hearle
J Med Genet 43:e41. 2006..58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of STK11 mutation. CONCLUSIONS: The risk of intussusception in PJS is not influenced by STK11 mutation status...
- Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)G Kurzawski
International Hereditary Cancer Center Department of Genetics and Pathology, Universit of Szczecin and Pomeranian Medical University, Szczecin, Poland
Clin Genet 69:40-7. 2006....
- Stamen structure and functionR J Scott
Department of Biology and Biochemistry, University of Bath, Bath BA2 7AY, United Kingdom
Plant Cell 16:S46-60. 2004
- Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in GermanyU Hamann
J Med Genet 39:E12. 2002
- Detection of germline mutations in the BRCA1 gene by RNA-based sequencingA Jakubowska
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Polabska, Poland
Hum Mutat 18:149-56. 2001..The sensitivity of our analyses was sufficient to reliably detect mutations without the necessity of tissue culturing to obtain enough template cDNA for analysis...
- Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer developmentJ L Mary
Department of Research, Kantonsspital, Basel, Switzerland
Hum Mol Genet 3:2067-9. 1994
- Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) geneZ Dobbie
Department of Research, University Clinics, Basel, Switzerland
Eur J Cancer 30:1709-13. 1994..A missense mutation in exon 3 and a 1 bp deletion in exon 4 of the APC gene were observed in patients presenting with the attenuated form of FAP...