Search Results - "Benn, Diana E."

Immunohistochemistry for SDHB triages genetic testing of SDHB , SDHC , and SDHD in paraganglioma-pheochromocytoma syndromes by Gill, Anthony J., FRCPA, Benn, Diana E., PhD, Chou, Angela, FRCPA, Clarkson, Adele, BSc, Muljono, Anita, FRCPA, Meyer-Rochow, Goswin Y., FRACS, Richardson, Anne Louise, BSc, Sidhu, Stan B., PhD, Robinson, Bruce G., MD, Clifton-Bligh, Roderick J., PhD

“…Summary Up to 30% of pheochromocytomas and paragangliomas are associated with germline RET , Von Hippel–Lindau ( VHL ), neurofibromatosis type I ( NF1 ), and…”
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Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors by Dwight, Trisha, Benn, Diana E, Clarkson, Adele, Vilain, Ricardo, Lipton, Lara, Robinson, Bruce G, Clifton-Bligh, Roderick J, Gill, Anthony J

“…Succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GISTs) are a unique class of GIST defined by negative immunohistochemical…”
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Breast cancer-associated fibroblasts induce epithelial-to-mesenchymal transition in breast cancer cells by Soon, Patsy S H, Kim, Edward, Pon, Cindy K, Gill, Anthony J, Moore, Katrina, Spillane, Andrew J, Benn, Diana E, Baxter, Robert C

“…Cancer-associated fibroblasts (CAFs) play a role in tumour initiation and progression, possibly by inducing epithelial-to-mesenchymal transition (EMT), a…”
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TERT structural rearrangements in metastatic pheochromocytomas by Dwight, Trisha, Flynn, Aidan, Amarasinghe, Kaushalya, Benn, Diana E, Lupat, Richard, Li, Jason, Cameron, Daniel L, Hogg, Annette, Balachander, Shiva, Candiloro, Ida L M, Wong, Stephen Q, Robinson, Bruce G, Papenfuss, Anthony T, Gill, Anthony J, Dobrovic, Alexander, Hicks, Rodney J, Clifton-Bligh, Roderick J, Tothill, Richard W

“…Pheochromocytomas (PC) and paragangliomas (PGL) are endocrine tumors for which the genetic and clinicopathological features of metastatic progression remain…”
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Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4 by Robinson, Bruce G, Pachter, Nicholas S, Tucker, Katherine M, Winship, Ingrid M, Gill, Anthony J, Clarkson, Adele, Benn, Diana E, Clifton-Bligh, Roderick J

“…This letter indicates that immunohistochemical analysis to detect succinic dehydrogenase subunit B (SDHB) protein can screen renal tumors for underlying SDHB…”
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Pheochromocytoma: Current Approaches and Future Directions by Adler, Joel T., Meyer‐Rochow, Goswin Y., Chen, Herbert, Benn, Diana E., Robinson, Bruce G., Sippel, Rebecca S., Sidhu, Stan B.

“…Learning Objectives After completing this course, the reader should be able to: Use current practice methods in the diagnosis of pheochromocytomas. Employ…”
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Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma by Dwight, Trisha, Na, Un, Kim, Edward, Zhu, Ying, Richardson, Anne Louise, Robinson, Bruce G, Tucker, Katherine M, Gill, Anthony J, Benn, Diana E, Clifton-Bligh, Roderick J, Winge, Dennis R

“…Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or…”
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MicroRNA profiling of benign and malignant pheochromocytomas identifies novel diagnostic and therapeutic targets by Meyer-Rochow, Goswin Y, Jackson, Nicole E, Conaglen, John V, Whittle, Denis E, Kunnimalaiyaan, Muthusamy, Chen, Herbert, Westin, Gunnar, Sandgren, Johanna, Stålberg, Peter, Khanafshar, Elham, Shibru, Daniel, Duh, Quan-Yang, Clark, Orlo H, Kebebew, Electron, Gill, Anthony J, Clifton-Bligh, Rory, Robinson, Bruce G, Benn, Diana E, Sidhu, Stan B

“…MicroRNAs (miRNAs) are small RNAs (∼22 bp) that post-transcriptionally regulate protein expression and are found to be differentially expressed in a number of…”
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Utility of the succinate:fumarate ratio for assessing SDH dysfunction in different tumor types by Kim, Edward, Wright, Michael JP, Sioson, Loretta, Novos, Talia, Gill, Anthony J., Benn, Diana E., White, Christopher, Dwight, Trisha, Clifton-Bligh, Roderick J.

“…Mutations of genes encoding the four subunits of succinate dehydrogenase (SDH) have been associated with pheochromocytoma and paraganglioma (PPGLs),…”
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The Utility of Metaiodobenzylguanidine Single Photon Emission Computed Tomography/Computed Tomography (MIBG SPECT/CT) for the Diagnosis of Pheochromocytoma by Meyer-Rochow, Goswin Y., Schembri, Geoff P., Benn, Diana E., Sywak, Mark S., Delbridge, Leigh W., Robinson, Bruce G., Roach, Paul J., Sidhu, Stan B.

“…Background The enhancement of metaiodobenzylguanidine single photon emission computed tomography (MIBG SPECT) imaging through the addition of CT images fused…”
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Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas by Toledo, Rodrigo A., Burnichon, Nelly, Cascon, Alberto, Benn, Diana E., Bayley, Jean-Pierre, Welander, Jenny, Tops, Carli M., Firth, Helen, Dwight, Trish, Ercolino, Tonino, Mannelli, Massimo, Opocher, Giuseppe, Clifton-Bligh, Roderick, Gimm, Oliver, Maher, Eamonn R., Robledo, Mercedes, Gimenez-Roqueplo, Anne-Paule, Dahia, Patricia L. M.

“…As a large number of genes have been implicated in the development of hereditary phaeochromocytomas and paragangliomas (PPGLs), next-generation sequencing…”
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Outcomes of SDHB Pathogenic Variant Carriers by Davidoff, Dahlia F, De Abreu Lourenco, Richard, Tsang, Venessa H M, Benn, Diana E, Clifton-Bligh, Roderick J

“…Abstract Context Carriers of germline pathogenic variants (PVs) in succinate dehydrogenase type B (SDHB) are at increased risk of developing pheochromocytomas…”
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Genetic Testing in Pheochromocytoma- and Paraganglioma-Associated Syndromes by BENN, DIANA E., RICHARDSON, ANNE LOUISE, MARSH, DEBORAH J., ROBINSON, BRUCE G.

“…:  Genetic understanding of pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes has recently expanded with the identification of the involvement of the…”
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Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas by BENN, Diana E, CROXSON, Michael S, TUCKER, Kathy, BAMBACH, Christopher P, RICHARDSON, Anne Louise, DELBRIDGE, Leigh, PULLAN, Peter T, HAMMOND, Jeremy, MARSH, Deborah J, ROBINSON, Bruce G

“…Phaeochromocytomas arising in adrenal or extra-adrenal sites and paragangliomas of the head and neck, in particular of the carotid bodies, occur sporadically…”
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Succinate Dehydrogenase (SDH)-deficient Renal Carcinoma: A Morphologically Distinct Entity: A Clinicopathologic Series of 36 Tumors From 27 Patients by Gill, Anthony J, Hes, Ondrej, Papathomas, Thomas, Šedivcová, Monika, Tan, Puay Hoon, Agaimy, Abbas, Andresen, Per Arne, Kedziora, Andrew, Clarkson, Adele, Toon, Christopher W, Sioson, Loretta, Watson, Nicole, Chou, Angela, Paik, Julie, Clifton-Bligh, Roderick J, Robinson, Bruce G, Benn, Diana E, Hills, Kirsten, Maclean, Fiona, Niemeijer, Nicolasine D, Vlatkovic, Ljiljana, Hartmann, Arndt, Corssmit, Eleonora P.M, van Leenders, Geert J.L.H, Przybycin, Christopher, McKenney, Jesse K, Magi-Galluzzi, Cristina, Yilmaz, Asli, Yu, Darryl, Nicoll, Katherine D, Yong, Jim L, Sibony, Mathilde, Yakirevich, Evgeny, Fleming, Stewart, Chow, Chung W, Miettinen, Markku, Michal, Michal, Trpkov, Kiril

“…Succinate dehydrogenase (SDH)-deficient renal carcinoma has been accepted as a provisional entity in the 2013 International Society of Urological Pathology…”
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Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study by Davidoff, Dahlia F, Benn, Diana E, Field, Michael, Crook, Ashley, Robinson, Bruce G, Tucker, Katherine, De Abreu Lourenco, Richard, Burgess, John R, Clifton-Bligh, Roderick J

“…Carriers of succinate dehydrogenase type B (SDHB) pathogenic variants (PVs) are at risk of pheochromocytoma and paraganglioma (PPGL) from a young age. It is…”
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Familial SDHA Mutation Associated With Pituitary Adenoma and Pheochromocytoma/Paraganglioma by Dwight, Trisha, Mann, Kirsty, Benn, Diana E, Robinson, Bruce G, McKelvie, Penny, Gill, Anthony J, Winship, Ingrid, Clifton-Bligh, Roderick J

“…Context: Reports of the coexistence of pituitary adenomas and pheochromocytoma/paraganglioma are uncommon. Recently germline mutations in 2 of the genes…”
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A Clinicopathologic and Molecular Analysis of Fumarate Hydratase–deficient Pheochromocytoma and Paraganglioma by Fuchs, Talia L., Luxford, Catherine, Clarkson, Adele, Sheen, Amy, Sioson, Loretta, Elston, Marianne, Croxson, Michael S., Dwight, Trisha, Benn, Diana E., Tacon, Lyndal, Field, Michael, Ahadi, Mahsa S., Chou, Angela, Clifton-Bligh, Roderick J., Gill, Anthony J.

“…Up to 40% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are hereditary. Germline mutations/deletions in fumarate hydratase ( FH ) cause hereditary…”
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Bayesian approach to determining penetrance of pathogenic SDH variants by Benn, Diana E, Zhu, Ying, Andrews, Katrina A, Wilding, Mathilda, Duncan, Emma L, Dwight, Trisha, Tothill, Richard W, Burgess, John, Crook, Ashley, Gill, Anthony J, Hicks, Rodney J, Kim, Edward, Luxford, Catherine, Marfan, Helen, Richardson, Anne Louise, Robinson, Bruce, Schlosberg, Arran, Susman, Rachel, Tacon, Lyndal, Trainer, Alison, Tucker, Katherine, Maher, Eamonn R, Field, Michael, Clifton-Bligh, Roderick J

“…Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach…”
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Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology by GILL, Anthony J, PACHTER, Nicholas S, FLEMING, Stewart, CLIFTON-BLIGH, Roderick J, CHOU, Angela, YOUNG, Barbara, CLARKSON, Adele, TUCKER, Katherine M, WINSHIP, Ingrid M, EARLS, Peter, BENN, Diana E, ROBINSON, Bruce G

“…Germline succinate dehydrogenase B (SDHB) mutation causes pheochromocytoma/paraganglioma syndrome type 4 (PGL4). PGL4 is characterized by pheochromocytoma and…”
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