R J Scott

Summary

Affiliation: New South Wales
Country: Australia

Publications

  1. ncbi request reprint Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients
    R J Scott
    Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW, Australia
    Clin Genet 62:282-7. 2002
  2. pmc Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
    R 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
  3. pmc Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity
    R J Scott
    Hunter Area Pathology Service, Locked Bag No 1, Hunter Regional Mail Centre, Newcastle NSW 2310, Australia
    Gut 48:508-14. 2001
  4. doi request reprint Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia
    M J Green
    School of Psychiatry, University of New South Wales, Research Unit for Schizophrenia Epidemiology, St Vincent s Hospital, Darlinghurst, NSW, Australia
    Mol Psychiatry 18:774-80. 2013
  5. doi request reprint 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
  6. ncbi request reprint Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations
    E 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
  7. doi request reprint 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 technology
    B 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
  8. doi request reprint The -149C>T SNP within the DeltaDNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer
    S 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
  9. doi request reprint Differential gene expression and cytokine production from neutrophils in asthma phenotypes
    K 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
  10. doi request reprint Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis
    T Dudding
    Hunter Genetics, Hunter New England Health Service, NSW, Australia
    J Thromb Haemost 6:1869-75. 2008

Collaborators

  • A D Spigelman
  • A Jablensky
  • M J Green
  • J K Olynyk
  • V J Carr
  • D Trinder
  • J Wu
  • G Kurzawski
  • S Yu
  • E Nurk
  • T Dudding
  • C J Meldrum
  • J Lubinski
  • T Debniak
  • E Thompson
  • B Acikyol
  • E Gardiner
  • U Hamann
  • R E Vilain
  • K J Baines
  • A Jakubowska
  • C Meldrum
  • N A Bowden
  • K A Ashton
  • B A Talseth-Palmer
  • J Attia
  • S G Reeves
  • E Chow
  • N Hearle
  • R Crooks
  • T Huzarski
  • C Cybulski
  • B Gorski
  • J Gronwald
  • T Byrski
  • D M Johnstone
  • E A Milward
  • M J House
  • R M Graham
  • N J Beveridge
  • P A Tooney
  • M J Cairns
  • S G Braye
  • S Ackland
  • C Groombridge
  • L Ashman
  • P G Gibson
  • J L Simpson
  • E Haan
  • J Liebelt
  • M McEvoy
  • M Gilbert
  • A Proietto
  • D Bratkovic
  • J Nicholl
  • I Symonds
  • G Otton
  • K Friend
  • J KÅ‚adny
  • R Maleszka
  • D Mossman
  • D Wokolorczyk
  • J Suchy
  • J Heron
  • P Serrano-Fernandez
  • E Kowalska
  • J Golding
  • L Nagay
  • B Debniak
  • M Pembrey
  • S M Ring
  • A Thakkinstian
  • T van de Wetering
  • A M Westerman
  • S Olschwang
  • G Moslein
  • V Schumacher
  • F Macrae
  • L A Boardman
  • F M Giardiello
  • T Vogel
  • B Royer-Pokora
  • J H P Wilson
  • R S Houlston
  • S B Gruber
  • G J A Offerhaus
  • F W M D E Rooij
  • J J Keller
  • J D Trimbath
  • W Lim

Detail Information

Publications22

  1. ncbi request reprint Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients
    R 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...
  2. pmc Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
    R 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
    ....
  3. pmc Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity
    R 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...
  4. doi request reprint Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia
    M J Green
    School of Psychiatry, University of New South Wales, Research Unit for Schizophrenia Epidemiology, St Vincent s Hospital, Darlinghurst, NSW, Australia
    Mol Psychiatry 18:774-80. 2013
    ....
  5. doi request reprint 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...
  6. ncbi request reprint Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations
    E 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...
  7. doi request reprint 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 technology
    B 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...
  8. doi request reprint The -149C>T SNP within the DeltaDNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer
    S 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...
  9. doi request reprint Differential gene expression and cytokine production from neutrophils in asthma phenotypes
    K 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...
  10. doi request reprint Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis
    T Dudding
    Hunter Genetics, Hunter New England Health Service, NSW, Australia
    J Thromb Haemost 6:1869-75. 2008
    ..These results, however, are conflicting...
  11. doi request reprint Estrogen receptor polymorphisms and the risk of endometrial cancer
    K 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
    ....
  12. doi request reprint Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation
    B Acikyol
    School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia
    Neuroscience 235:119-28. 2013
    ..Perturbations of brain phenomena such as long-term depression and long-term potentiation might partly explain neurologic symptoms reported for some hemochromatosis patients...
  13. pmc Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells
    E 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...
  14. ncbi request reprint An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus
    E Chow
    Royal Melbourne Hospital, Parkville, Victoria, Australia
    Clin Genet 70:409-14. 2006
    ....
  15. ncbi request reprint Common variants of DNA repair genes and malignant melanoma
    T 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...
  16. pmc STK11 status and intussusception risk in Peutz-Jeghers syndrome
    N Hearle
    J Med Genet 43:e41. 2006
    ..Peutz-Jeghers syndrome (PJS) is caused by germline STK11 mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients...
  17. ncbi request reprint 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
    ....
  18. pmc Stamen structure and function
    R J Scott
    Department of Biology and Biochemistry, University of Bath, Bath BA2 7AY, United Kingdom
    Plant Cell 16:S46-60. 2004
  19. pmc Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany
    U Hamann
    J Med Genet 39:E12. 2002
  20. ncbi request reprint Detection of germline mutations in the BRCA1 gene by RNA-based sequencing
    A 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...
  21. ncbi request reprint Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development
    J L Mary
    Department of Research, Kantonsspital, Basel, Switzerland
    Hum Mol Genet 3:2067-9. 1994
  22. ncbi request reprint Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene
    Z 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...