Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)

por Maniam, Pavithran, Zhou, Kaixin, Lonergan, Mike, Berg, Jonathan N, Goudie, David R, Newey, Paul J
Publicado 2018

Faecal haemoglobin concentration in adenoma, before and after polypectomy, approaches the ideal tumour marker

por Mowat, Craig, Digby, Jayne, Cleary, Shirley, Gray, Lynne, Datt, Pooja, Goudie, David R, Steele, Robert JC, Strachan, Judith A, Humphries, Adam, Fraser, Callum G
Publicado 2022

Faecal haemoglobin can define risk of colorectal neoplasia at surveillance colonoscopy in patients at increased risk of colorectal cancer

por Digby, Jayne, Cleary, Shirley, Gray, Lynne, Datt, Pooja, Goudie, David R, Steele, Robert J C, Strachan, Judith A, Humphries, Adam, Fraser, Callum G, Mowat, Craig
Publicado 2020

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

por Kang, Hio Chung, Quigley, David A., Kim, Il-Jin, Wakabayashi, Yuichi, Ferguson-Smith, Malcolm A, D’Alessandro, Mariella, Lane, E Birgitte, Akhurst, Rosemary J., Goudie, David R, Balmain, Allan
Publicado 2013

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

por Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., Wilson, Neil J., Smith, Frances J. D., Goh, Christabelle S. M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J., Evans, Alan T., Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Akihiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J., McGrath, John A, Brown, Sara J., Goudie, David R., Reversade, Bruno, Munro, Colin S., McLean, W. H. Irwin
Publicado 2012

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

por Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.
Publicado 2016