Search Results - Mary Porteous

Refine Results
  1. 1
    Hereditary haemorrhagic telangiectasia: a clinical analysis.

    Hereditary haemorrhagic telangiectasia: a clinical analysis. by Mary Porteous, John Burn, S J Proctor

    Published 1992
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Integrated care pathways

    Integrated care pathways by H. Campbell, Rhona Hotchkiss, Nicholas J. Bradshaw, Mary Porteous

    Published 1998
    Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

    Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? by Jonathan Berg, Alan E. Guttmacher, Douglas A. Marchuk, Mary Porteous

    Published 1996
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Association of MUTYH and colorectal cancer

    Association of MUTYH and colorectal cancer by Albert Tenesa, Harry Campbell, RA Barnetson, Mary Porteous, Malcolm G. Dunlop, Susan M. Farrington

    Published 2006
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  5. 5
    Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care

    Moving into the mainstream: healthcare professionals’ views of implementing treatment focussed genetic testing in breast cancer care by Nina Hallowell, S.C.D. Wright, D. Stirling, Charlie Gourley, O. Young, Mary Porteous

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Accuracy of reporting of family history of colorectal cancer

    Accuracy of reporting of family history of colorectal cancer by Rory Mitchell, David Brewster, H. Campbell, Mary Porteous, A H Wyllie, C C Bird, Malcolm G. Dunlop

    Published 2004
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects

    Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects by Susan M. Farrington, Albert Tenesa, Rebecca A. Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

    Published 2005
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer

    Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer by Rebecca A. Barnetson, Albert Tenesa, Susan M. Farrington, Iain D. Nicholl, Roseanne Cetnarskyj, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    OFD1, the Gene Mutated in Oral-Facial-Digital Syndrome Type 1, Is Expressed in the Metanephros and in Human Embryonic Renal Mesenchymal Cells

    OFD1, the Gene Mutated in Oral-Facial-Digital Syndrome Type 1, Is Expressed in the Metanephros and in Human Embryonic Renal Mesenchymal Cells by Leila Romio, Victoria Wright, Karen Price, Paul Winyard, Dian Donnai, Mary Porteous, Brunella Franco, Giovanna Giorgio, Sue Malcolm, Adrian S. Woolf, Sally Feather

    Published 2003
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

    The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 by Jonathan Berg, Carol J. Gallione, Timothy T. Stenzel, David W. Johnson, William P. Allen, Charles E. Schwartz, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk

    Published 1997
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

    Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor by N.German Pasteris, Amy B. Cadle, Lindsay J. Logie, Mary Porteous, Charles E. Schwartz, Roger E. Stevenson, Thomas W. Glover, R. Sid Wilroy, Jerome L. Gorski

    Published 1994
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

    Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer by Rebecca A. Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan M. Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary Porteous, Malcolm G. Dunlop

    Published 2007
    Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Associations between dietary and lifestyle risk factors and colorectal cancer in the Scottish population

    Associations between dietary and lifestyle risk factors and colorectal cancer in the Scottish population by Evropi Τheodoratou, Susan M. Farrington, Albert Tenesa, Geraldine McNeill, Roseanne Cetnarskyj, Emmanouil Korakakis, Farhat V. N. Din, Mary Porteous, Malcolm G. Dunlop, Harry Campbell

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

    A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. by David W. Johnson, Jonathan Berg, Carol J. Gallione, Kimberly A. McAllister, Jon Warner, E.A. Helmbold, Dorene S. Markel, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk

    Published 1995
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Diet, Environmental Factors, and Lifestyle Underlie the High Prevalence of Vitamin D Deficiency in Healthy Adults in Scotland, and Supplementation Reduces the Proportion That Are Severely Deficient

    Diet, Environmental Factors, and Lifestyle Underlie the High Prevalence of Vitamin D Deficiency in Healthy Adults in Scotland, and Supplementation Reduces the Proportion That Are S... by Lina Zgaga, Evropi Τheodoratou, Susan M. Farrington, Felix Agakov, Albert Tenesa, Marion Walker, Susan Knox, A. Michael Wallace, Roseanne Cetnarskyj, Geraldine McNeill, J. Kyle, Mary Porteous, MG Dunlop, Harry Campbell

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... by Yoann Saillour, Ginevra Zanni, V. des Portes, D. Héron, Laurent Guibaud, M T Iba-Zizen, Jean‐Michel Pédespan, Karine Poirier, L. Castelnau, Cédric Julien, C Franconnet, David T. Bonthron, Mary Porteous, Jamel Chelly, Thierry Bienvenu

    Published 2007
    Get full text
    Carta
    Save to List
    Saved in:
  17. 17
    Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

    Genetic epidemiology of motor neuron disease-associated variants in the Scottish population by Holly A. Black, Danielle Leighton, Elaine Cleary, Elaine Rose, Laura Stephenson, Shuna Colville, David Ross, Jon Warner, Mary Porteous, George Gorrie, Robert Swingler, David B. Goldstein, Matthew Harms, Peter Connick, Suvankar Pal, Timothy J. Aitman, Siddharthan Chandran

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

    Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 by Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H. A. M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, M.H. Breuning, Karl‐Heinz Grzeschik, Jan C. Oosterwijk, Johan T. den Dunnen

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

    Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 by Kimberly A. McAllister, K.M. Grogg, David W. Johnson, Carol J. Gallione, Melanie A. Baldwin, Charles E. Jackson, E.A. Helmbold, Dorene S. Markel, Wendy McKinnon, J. Murrel, Mary Kay McCormick, M. A. Pericak‐Vance, Peter Heutink, Ben A. Oostra, T. Haitjema, C.J.J. Westerman, Mary Porteous, Alan E. Guttmacher, Michelle Letarte, Douglas A. Marchuk

    Published 1994
    Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study by Tommy Nyberg, Debra Frost, Daniel Barrowdale, D. Gareth Evans, Elizabeth Bancroft, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela F. Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Jacqueline Eason, Helen Gregory, Alex Henderson, Louise Izatt, Michael J. Kennedy, Claire Miller, Patrick J. Morrison, Alex Murray, Kai‐Ren Ong, Mary Porteous, Caroline Pottinger, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, Marc Tischkowitz, Rosalind A. Eeles, Douglas F. Easton, Antonis C. Antoniou

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: