Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Trisha, Dwight"'
Autor:
Louise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, Cristina Alvarez-Escola, Kornelia Hasse-Lazar, Simona Censi, Luciana A Castroneves, Akihiro Sakurai, Minoru Kihara, Kiyomi Horiuchi, Véronique Dorine Barbu, Francoise Borson-Chazot, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Stephane Pinson, Nelson Wohllk, Charis Eng, Berna Imge Aydogan, Dhananjaya Saranath, Sarka Dvorakova, Frederic Castinetti, Attila Patocs, Damijan Bergant, Thera P Links, Mariola Peczkowska, Ana O Hoff, Caterina Mian, Trisha Dwight, Barbara Jarzab, Hartmut P H Neumann, Mercedes Robledo, Shinya Uchino, Anne Barlier, Christian Godballe, Jes Sloth Mathiesen
Publikováno v:
Endocrine Connections, Vol 9, Iss 6, Pp 489-497 (2020)
Objective: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with appa
Externí odkaz:
https://doaj.org/article/fce9b24b992c46119c9143129797252c
Autor:
Trisha Dwight, Un Na, Edward Kim, Ying Zhu, Anne Louise Richardson, Bruce G. Robinson, Katherine M. Tucker, Anthony J. Gill, Diana E. Benn, Roderick J. Clifton-Bligh, Dennis R. Winge
Publikováno v:
BMC Cancer, Vol 17, Iss 1, Pp 1-12 (2017)
Abstract Background Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or paraganglioma (PGL). As assembly factors have been identified as playing a role in
Externí odkaz:
https://doaj.org/article/438f16cc0cc244d3badd5b2b6f5b2f2f
Autor:
Edward Kim, Michael JP. Wright, Loretta Sioson, Talia Novos, Anthony J. Gill, Diana E. Benn, Christopher White, Trisha Dwight, Roderick J. Clifton-Bligh
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 45-49 (2017)
Objective: Mutations of genes encoding the four subunits of succinate dehydrogenase (SDH) have been associated with pheochromocytoma and paraganglioma (PPGLs), gastrointestinal stromal tumors (GISTs) and renal cell carcinomas (RCCs). These tumors hav
Externí odkaz:
https://doaj.org/article/840da8991a9044f0bad2d642c0a7f729
Autor:
Talia L. Fuchs, Catherine Luxford, Adele Clarkson, Amy Sheen, Loretta Sioson, Marianne Elston, Michael S. Croxson, Trisha Dwight, Diana E. Benn, Lyndal Tacon, Michael Field, Mahsa S. Ahadi, Angela Chou, Roderick J. Clifton-Bligh, Anthony J. Gill
Publikováno v:
American Journal of Surgical Pathology. 47:25-36
Up to 40% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are hereditary. Germline mutations/deletions in fumarate hydratase ( FH ) cause hereditary leiomyomatosis and renal cell carcinoma syndrome which manifests predominantly with FH-deficien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1855ad11607bc17105258df7b9e3c8e4
https://doi.org/10.1097/pas.0000000000001945
https://doi.org/10.1097/pas.0000000000001945
Autor:
Amanda L. Hudson, Nicole R. Parker, Peter Khong, Jonathon F. Parkinson, Trisha Dwight, Rowan J. Ikin, Ying Zhu, Jason Chen, Helen R. Wheeler, Viive M. Howell
Publikováno v:
Frontiers in Oncology, Vol 8 (2018)
While treatment with surgery, radiotherapy and/or chemotherapy may prolong life for patients with glioblastoma, recurrence is inevitable. What is still being discovered is how much these treatments and recurrence of disease affect the molecular profi
Externí odkaz:
https://doaj.org/article/c7812e4886db453789e8b0680dda9954
Autor:
Catherine Luxford, Anthony J. Gill, John Burgess, Andrea R. Horvath, Talia Novos, Roderick J. Clifton-Bligh, Trisha Dwight, Dahlia F Davidoff, Edward Kim
Publikováno v:
Clinical Chemistry. 67:696-699
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9bda754b7ddc442743afcdd51d19b4b6
https://doi.org/10.1093/clinchem/hvab004
https://doi.org/10.1093/clinchem/hvab004
Autor:
Massimo Mannelli, Susan Richter, Trisha Dwight, Roderick J. Clifton-Bligh, Karine Bastard, Edward Kim, Graeme Eisenhofer, Karel Pacak, Aleksander Prejbisz, Mariola Pęczkowska, Elena Rapizzi, Diana E. Benn
Publikováno v:
Endocrine-Related Cancer
Mosaic or somatic EPAS1 mutations are associated with a range of phenotypes including pheochromocytoma and/or paraganglioma (PPGL), polycythemia and somatostatinoma. The pathogenic potential of germline EPAS1 variants however is not well understood.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561b3b4e2b896e442949cbd80263ca5d
http://europepmc.org/articles/PMC7989857
http://europepmc.org/articles/PMC7989857
Autor:
Daniel Katselnik, Yanli Ding, Camilo Jimenez, Michael A. Liss, Bernadette Biondi, Zi Ming Cheng, Tobias Else, Marta Barontini, Nelly Burnichon, Rory Clifton-Bligh, Gustavo Armaiz-Pena, Alfredo A. Santillan-Gomez, Andrea Alvarez-Eslava, Deepa Vincent, Oksana Hamidi, Mio Kitano, Trisha Dwight, Enrique Maldonado, Joel E. Michalek, Diana E. Benn, Emmanuel Esquivel, Gabriela Sanso, Anne Paule Gimenez-Roqueplo, Maureen Koops, Art S. Tischler, Patricia L. M. Dahia, Xhingyu Zhang, Lauren Fishbein, Natalie Poullard, Anusha Vaidyanathan, Qianqian Liu, Shahida K. Flores, Neil Aronin, Ron Lechan, Elizabeth Bowhay-Carnes, Sara Ahmadi, Jan M. Bruder, Sarimar Agosto Salgado
Publikováno v:
J Clin Endocrinol Metab
Purpose This work aimed to evaluate genotype-phenotype associations in individuals carrying germline variants of transmembrane protein 127 gene (TMEM127), a poorly known gene that confers susceptibility to pheochromocytoma (PHEO) and paraganglioma (P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e54bfa76c78ec866835518d27cac3fb
https://doi.org/10.1210/clinem/dgaa741
https://doi.org/10.1210/clinem/dgaa741
Autor:
Jason I Hockings, Catherine Luxford, Amanda J Seabrook, G. I. Hockings, Aideen M. McInerney-Leo, Trisha Dwight, Sofia B Velosa, David J. Pennisi, Edward Kim, Judy Kirk, Roderick J. Clifton-Bligh, Nicholas G Hockings, Ozgur Mete, Anthony J. Gill, Jessica Harris, Emma L. Duncan, Paul Leo, Matthew A. Brown, Amanda Love, Mhairi Marshall
Publikováno v:
The Journal of clinical endocrinology and metabolism. 106(4)
Context Pathogenic germline MAX variants are associated with pheochromocytoma and paraganglioma (PPGL), pituitary neuroendocrine tumors and, possibly, other endocrine and nonendocrine tumors. Objective To report 2 families with germline MAX variants,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3b7b5e398a349ae474b9b15ec2e0847
https://pubmed.ncbi.nlm.nih.gov/33367756
https://pubmed.ncbi.nlm.nih.gov/33367756
Autor:
Jason Li, Ida L M Candiloro, Aidan Flynn, Richard W. Tothill, Alexander Dobrovic, Anthony J. Gill, Anthony T. Papenfuss, Kaushalya C. Amarasinghe, Shiva Balachander, Daniel L Cameron, Roderick J. Clifton-Bligh, Diana E. Benn, Stephen Q. Wong, Rodney J. Hicks, Annette Hogg, Richard Lupat, Bruce G. Robinson, Trisha Dwight
Publikováno v:
Endocrine-Related Cancer. 25:1-9
Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors for which the genetic and clinicopathological features of metastatic progression remain incompletely understood. As a result, the risk of metastasis from a primary tumor cannot be p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::130c3c16f8695acd4bf04c825f0051ca
https://doi.org/10.1530/erc-17-0306
https://doi.org/10.1530/erc-17-0306