Gastrointestinal polyposis syndromes for the general gastroenterologist

Por Hurley, Joanna J, Ewing, Iain, Sampson, Julian R, Dolwani, Sunil
Publicado no Frontline Gastroenterol (2014)

mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3

Por Dodd, Kayleigh M., Yang, Jian, Shen, Ming Hong, Sampson, Julian R., Tee, Andrew R.
Publicado em 2014

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH pol...

Por Bai, Haibo, Jones, Siân, Guan, Xin, Wilson, Teresa M., Sampson, Julian R., Cheadle, Jeremy P., Lu, A-Lien
Publicado em 2005

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

Por Kwiatkowski, David J, Palmer, Michael R, Jozwiak, Sergiusz, Bissler, John, Franz, David, Segal, Scott, Chen, David, Sampson, Julian R
Publicado no Eur J Hum Genet (2015)

Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2(+/−) Mice Is Superior to Everolimus Alone()

Por Yang, Jian, Samsel, Paulina A., Narov, Kalin, Jones, Ashley, Gallacher, Daniel, Gallacher, John, Sampson, Julian R., Shen, Ming Hong
Publicado no Neoplasia (2017)

Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III

Por Aspinwall, Richard, Rothwell, Dominic G., Roldan-Arjona, Teresa, Anselmino, Catherine, Ward, Christopher J., Cheadle, Jeremy P., Sampson, Julian R., Lindahl, Tomas, Harris, Peter C., Hickson, Ian D.
Publicado em 1997

Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes

Por Rashid, Mamunur, Fischer, Andrej, Wilson, Cathy H, Tiffen, Jessamy, Rust, Alistair G, Stevens, Philip, Idziaszczyk, Shelley, Maynard, Julie, Williams, Geraint T, Mustonen, Ville, Sampson, Julian R, Adams, David J
Publicado no J Pathol (2015)

Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy

Por Siroky, Brian J., Yin, Hong, Dixon, Bradley P., Reichert, Ryan J., Hellmann, Anna R., Ramkumar, Thiruvamoor, Tsuchihashi, Zenta, Bunni, Marlene, Dillon, Joshua, Bell, P. Darwin, Sampson, Julian R., Bissler, John J.
Publicado no Am J Physiol Renal Physiol (2014)

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

Por Nielsen, Maartje, van Steenbergen, Liza N., Jones, Natalie, Vogt, Stefanie, Vasen, Hans F. A., Morreau, Hans, Aretz, Stefan, Sampson, Julian R., Dekkers, Olaf M., Janssen-Heijnen, Maryska L. G., Hes, Frederik J.
Publicado em 2010

NTNG1 Mutations are a Rare Cause of Rett Syndrome

Por Archer, Hayler L., Evans, Julie C., Millar, David S., Thompson, Peter W., Kerr, Alison M., Leonard, Helen, Christodoulou, John, Ravine, David, Lazarou, Lazarus, Grove, Lucy, Verity, Christopher, Whatley, Sharon D., Pilz, Daniela T., Sampson, Julian R., Clarke, Angus J.
Publicado em 2006

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial

Por Randell, Elizabeth, McNamara, Rachel, Davies, D. Mark, Owen-Jones, Eleri, Kirby, Nigel, Angel, Lianna, Drew, Cheney, Cannings-John, Rebecca, Smalley, Michelle, Saxena, Anurag, McDermott, Emer, Stockwell, Laura, de Vries, Petrus J., Hood, Kerry, Sampson, Julian R.
Publicado no Trials (2016)

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

Por Dunlop, Elaine A, Dodd, Kayleigh M, Land, Stephen C, Davies, Peter A, Martins, Nicole, Stuart, Helen, McKee, Shane, Kingswood, Chris, Saggar, Anand, Corderio, Isabel, Medeira, Ana Maria Duarte, Kingston, Helen, Sampson, Julian R, Davies, David Mark, Tee, Andrew R
Publicado em 2011

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Por Consugar, Mark B., Wong, Wai C., Lundquist, Patrick A., Rossetti, Sandro, Kubly, Vickie J., Walker, Denise L., Rangel, Laureano J., Aspinwall, Richard, Niaudet, W. Patrick, Özen, Seza, David, Albert, Velinov, Milen, Bergstralh, Eric J., Bae, Kyongtae T., Chapman, Arlene B., Guay-Woodford, Lisa M., Grantham, Jared J., Torres, Vicente E., Sampson, Julian R., Dawson, Brian D., Harris, Peter C.
Publicado em 2008

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

Por Winney, Bruce, Boumertit, Abdelhamid, Day, Tammy, Davison, Dan, Echeta, Chikodi, Evseeva, Irina, Hutnik, Katarzyna, Leslie, Stephen, Nicodemus, Kristin, Royrvik, Ellen C, Tonks, Susan, Yang, Xiaofeng, Cheshire, James, Longley, Paul, Mateos, Pablo, Groom, Alexandra, Relton, Caroline, Bishop, D Tim, Black, Kathryn, Northwood, Emma, Parkinson, Louise, Frayling, Timothy M, Steele, Anna, Sampson, Julian R, King, Turi, Dixon, Ron, Middleton, Derek, Jennings, Barbara, Bowden, Rory, Donnelly, Peter, Bodmer, Walter
Publicado em 2012

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Por Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian R., Roncaroli, Federico, Korbonits, Márta
Publicado no Acta Neuropathol Commun (2016)

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Por Vasen, Hans F A, Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P, Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian M, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J, Hodgson, Shirley V, Karagiannis, John A, Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Møller, Pal, Myrhoj, Torben, Nagengast, Fokko M, Parc, Yann, Ponz de Leon, Maurizio, Renkonen-Sinisalo, Laura, Sampson, Julian R, Stormorken, Astrid, Sijmons, Rolf H, Tejpar, Sabine, Thomas, Huw J W, Rahner, Nils, Wijnen, Juul T, Järvinen, Heikki Juhani, Möslein, Gabriela
Publicado em 2013