Zobrazeno 1 - 10 of 64 pro vyhledávání: '"Diana E Benn"'
1
Akademický článek
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.
Autor: Patricia L M Dahia, Ken N Ross, Matthew E Wright, César Y Hayashida, Sandro Santagata, Marta Barontini, Andrew L Kung, Gabriela Sanso, James F Powers, Arthur S Tischler, Richard Hodin, Shannon Heitritter, Francis Moore, Robert Dluhy, Julie Ann Sosa, I Tolgay Ocal, Diana E Benn, Deborah J Marsh, Bruce G Robinson, Katherine Schneider, Judy Garber, Seth M Arum, Márta Korbonits, Ashley Grossman, Pascal Pigny, Sérgio P A Toledo, Vania Nosé, Cheng Li, Charles D Stiles
Publikováno v: PLoS Genetics, Vol 1, Iss 1, Pp 72-80 (2005)
Pheochromocytomas are neural crest-derived tumors that arise from inherited or sporadic mutations in at least six independent genes. The proteins encoded by these multiple genes regulate distinct functions. We show here a functional link between tumo
Externí odkaz: https://doaj.org/article/7bb7eecfd11145148cad35a3854632b4
Zobrazit plný text záznamu
2
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase–deficient Pheochromocytoma and Paraganglioma
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
Zobrazit plný text záznamu
3
Data from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann
Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4fbe61dd8db06e5f706d9e065ad33de2
https://doi.org/10.1158/0008-5472.c.6499770.v1
Zobrazit plný text záznamu
4
Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann
Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26162fed8f1db4a52af2fb4436e57f2c
https://doi.org/10.1158/0008-5472.22381143
Zobrazit plný text záznamu
5
Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann
Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78ddf07e00ab6185d419cb6e06b8ddaf
https://doi.org/10.1158/0008-5472.22381140
Zobrazit plný text záznamu
6
Other Supporting Colleagues from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann
Other Supporting Colleagues from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72fa6b38f7ae449dbd65312a00f01f6f
https://doi.org/10.1158/0008-5472.22381149.v1
Zobrazit plný text záznamu
7
Supplementary Table 2 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Autor: Charis Eng, Carlos Suarez, Andrzej Januszewicz, Gerd J. Ridder, Giuseppe Opocher, Alberto Cascon, Klaus Zerres, Ulrich Finckh, Witold Szyfter, Matti Välimäki, Peter Schwerdtfeger, Sven Koscielny, Matthias Kühnemund, Alexander Glien, Christoph Brase, Jörg Schipper, Masoud Motasaddi Zarandy, Mahdi Malekpour, Harald Gorgulla, Christian Fottner, Timo Stöver, Holger Kaftan, Martin A. Walter, Dirk Eβer, Simon F. Preuss, Nicole Reisch, Christoph Matthias, Gerhard Dyckhoff, Michael Strohm, Stephan Knipping, Robert R. Lorenz, Mihaela Muresan, Wolfgang Draf, Svetlana Yaremchuk, Dmitry Zabolotny, Michael Croxson, Diana Learoyd, Robyn L. Ward, Pascal Pigny, Agata Kubaszek, Mariola Peczkowska, Marjan M. Weiss, Maria A. Sevilla, Maren Sullivan, Michael M. Hoffmann, Boris A. Stuck, Gerd Rasp, Stefanie Wiegand, Bruce G. Robinson, Diana E. Benn, Emily Edelman, Markus Fischer, Karen Lampe, Catherine Bauters, Pingling Kwok, Maurizio Falcioni, Francesca Schiavi, Mario Hermsen, Mercedes Robledo, Lisa A. Rybicki, Carsten C. Boedeker, Zoran Erlic, Hartmut P.H. Neumann
Supplementary Table 2 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245878e4bbfe464c345e249252ade6d6
https://doi.org/10.1158/0008-5472.22381137
Zobrazit plný text záznamu
8
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring
Autor: Dahlia F Davidoff, Eugénie S Lim, Diana E Benn, Yuvanaa Subramaniam, Eleanor Dorman, John R Burgess, Scott A Akker, Roderick J Clifton-Bligh
Publikováno v: Endocrine-Related Cancer. 30
Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs’s cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1f7d34586c107fa4527563ec9868a53
https://doi.org/10.1530/erc-22-0233
Zobrazit plný text záznamu
9
Pheochromocytoma: Impact of genetic testing on clinical practice in Vietnam
Autor: Minh Duc Do, Thang Viet Tran, Hoang Linh Le Gia, Hoang Van Lam, Hen Huu Phan, Minh Binh Ta, An Thuy Thi Nguyen, Ngoc The Phung, Diana E Benn, Bruce G Robinson, Vu Anh Hoang, Thao Phuong Mai
Publikováno v: MedPharmRes. 5:12-16
Introduction: Germline mutations in predisposing genes have been found in 30-40% of pheochromocytoma/paraganglioma patients. Screening for inherited genetic mutations provide clinicians with mutation-positive patient management strategies in addition
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d115033caaa882836b7a474b1cdf7409
https://doi.org/10.32895/ump.mpr.5.2.3
Zobrazit plný text záznamu
10
Functional significance of germline EPAS1 variants
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
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje