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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 365, doi. 10.1038/ng.780
By:
- Goudie, David R.;
- D'Alessandro, Mariella;
- Merriman, Barry;
- Lee, Hane;
- Szeverényi, Ildikó;
- Avery, Stuart;
- O'Connor, Brian D.;
- Nelson, Stanley F.;
- Coats, Stephanie E.;
- Stewart, Arlene;
- Christie, Lesley;
- Pichert, Gabriella;
- Friedel, Jean;
- Hayes, Ian;
- Burrows, Nigel;
- Whittaker, Sean;
- Gerdes, Anne-Marie;
- Broesby-Olsen, Sigurd;
- Ferguson-Smith, Malcolm A.;
- Verma, Chandra
Publication type:
Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Published in:
Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
By:
- Smith, Frances J. D.;
- Irvine, Alan D.;
- Terron-Kwiatkowski, Ana;
- Sandilands, Aileen;
- Campbell, Linda E.;
- Yiwei Zhao;
- Haihui Liao;
- Evans, Alan T.;
- Goudie, David R.;
- Lewis-Jones, Sue;
- Arseculeratne, Gehan;
- Munro, Colin S.;
- Sergeant, Ann;
- O'Regan, Gráinne;
- Bale, Sherri J.;
- Compton, John G.;
- DiGiovanna, John J.;
- Presland, Richard B.;
- Fleckman, Philip;
- McLean, W. H. Irwin
Publication type:
Article
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Published in:
Nature Genetics, 2006, v. 38, n. 4, p. 441, doi. 10.1038/ng1767
By:
- Palmer, Colin N. A.;
- Irvine, Alan D.;
- Terron-Kwiatkowski, Ana;
- Yiwei Zhao;
- Haihui Liao;
- Lee, Simon P.;
- Goudie, David R.;
- Sandilands, Aileen;
- Campbell, Linda E.;
- Smith, Frances J. D.;
- O'Regan, Gráinne M.;
- Watson, Rosemarie M.;
- Cecil, Jo E.;
- Bale, Sherri J.;
- Compton, John G.;
- DiGiovanna, John J.;
- Fleckman, Philip;
- Lewis-Jones, Sue;
- Arseculeratne, Gehan;
- Sergeant, Ann
Publication type:
Article
Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker.
Published in:
Annals of Clinical Biochemistry, 2022, v. 59, n. 4, p. 272, doi. 10.1177/00045632221080897
By:
- Mowat, Craig;
- Digby, Jayne;
- Cleary, Shirley;
- Gray, Lynne;
- Datt, Pooja;
- Goudie, David R;
- Steele, Robert JC;
- Strachan, Judith A;
- Humphries, Adam;
- Fraser, Callum G
Publication type:
Article
Multiple Self-Healing Squamous Epithelioma (MSSE): Rare Variants in an Adjacent Region of Chromosome 9q22.3 to Known TGFBR1 Mutations Suggest a Digenic or Multilocus Etiology.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 7, p. 1907, doi. 10.1038/jid.2013.45
By:
- Chung Kang, Hio;
- Quigley, David A;
- Kim, Il-Jin;
- Wakabayashi, Yuichi;
- Ferguson-Smith, Malcolm A;
- D'Alessandro, Mariella;
- Birgitte Lane, E;
- Akhurst, Rosemary J;
- Goudie, David R;
- Balmain, Allan
Publication type:
Article
Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis.
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 12, p. 2795, doi. 10.1038/sj.jid.5700971
By:
- Haihui Liao;
- Waters, Alex J.;
- Goudie, David R.;
- Aitken, David A.;
- Graham, Gordon;
- Smith, Frances J. D.;
- Lewis-Jones, Sue;
- McLean, W. H. Irwin
Publication type:
Article
Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 10, p. 2336, doi. 10.1038/sj.jid.5700914
By:
- D'Alessandro, Mariella;
- Coats, Stephanie E.;
- Morley, Susan M.;
- Mackintosh, Lorna;
- Tessari, Gianpaolo;
- Turco, Alberto;
- Gerdes, Anne-Marie;
- Pichert, Gabriella;
- Whittaker, Sean;
- Brandrup, Flemming;
- Broesby-Olsen, Sigurd;
- Gomez-Lira, Macarena;
- Girolomoni, Giampiero;
- Maize, John C.;
- Feldman, Ron J.;
- Kato, Naoko;
- Koga, Yukiko;
- Ferguson-Smith, Malcolm A.;
- Goudie, David R.;
- Lane, E. Birgitte
Publication type:
Article
Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis.
Published in:
Journal of Investigative Dermatology, 2006, v. 126, n. 8, p. 1770, doi. 10.1038/sj.jid.5700459
By:
- Sandilands, Aileen;
- O'Regan, Gráinne M.;
- Liao, Haihui;
- Zhao, Yiwei;
- Terron-Kwiatkowski, Ana;
- Watson, Rosemarie M.;
- Cassidy, Andrew J.;
- Goudie, David R.;
- Smith, Frances J. D.;
- McLean, W. H. Irwin;
- Irvine, Alan D.
Publication type:
Article
Lifestyle Changes in Women at Genetic Risk of Breast Cancer: an Observational Study.
Published in:
International Journal of Behavioral Medicine, 2013, v. 20, n. 4, p. 514, doi. 10.1007/s12529-012-9263-0
By:
- McLeish, Lorna;
- Reis, Marta M.;
- Stewart, Clare;
- Goudie, David R.;
- Berg, Jonathan N.;
- Harvie, Michelle;
- Hanning, Kirstie A.;
- Vysny, Helen;
- Steel, C. Michael
Publication type:
Article
Mutations in the chromatin-associated protein ATRX.
Published in:
2008
By:
- Gibbons, Richard J.;
- Wada, Takahito;
- Fisher, Christopher A.;
- Malik, Nicola;
- Mitson, Matthew J.;
- Steensma, David P.;
- Fryer, Alan;
- Goudie, David R.;
- Krantz, Ian D.;
- Traeger-Synodinos, Joanne
Publication type:
Other
Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.
Published in:
Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329
By:
- Wolf, Barry;
- Jensen, Kevin P.;
- Barshop, Bruce;
- Blitzer, Miriam;
- Carlson, Martha;
- Goudie, David R.;
- Gokcay, Gulden Huner;
- Demirkol, Mubeccel;
- Baykal, Tolunay;
- Demir, F.;
- Quary, Sharon;
- Shih, Ling Yu;
- Pedro, Helio F.;
- Chen, Tsui-hua H.;
- Slonim, Alfred E.
Publication type:
Article

Found: 11