Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Plamena Gabrovska"'
Autor:
Jonathan P. Bestwick, Mirjam Christ-Crain, Sharon Ajodha, Plamena Gabrovska, Olufunso Akanle, Ida Pernicova, Stephen Kelly, Marietta Stadler, Ashley B. Grossman, Ramzi A. Ajjan, Costantino Pitzalis, Blerina Kola, Márta Korbonits, William D. Fraser, Anju Sahdev
Summary Background An urgent need to reduce the metabolic side-effects of glucocorticoid overexposure has been recognised, as glucocorticoid excess can lead to Cushing's syndrome, which is associated with high morbidity. We aimed to evaluate the pote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::decbf2c8684856eab502cd73ccfcd238
https://ueaeprints.uea.ac.uk/id/eprint/75538/
https://ueaeprints.uea.ac.uk/id/eprint/75538/
Autor:
Maike Nieser, Rosana Quezado, Emily M. Walker, Plamena Gabrovska, Bruno Niederle, Donato Iacovazzo, Michael Brändle, Matthew B. Johnson, Wouter W. de Herder, Richard Caswell, Bence Sipos, Roland Stein, Márta Korbonits, Sarah E. Flanagan, Min Guo, Fernando Antonio de Sousa Barros, Emanuel Christ, Ketan Dhatariya, Philippe Chanson, Andrea Frilling, Sian Ellard, Björn Konukiewitz, Stefan Jenni, Günter Klöppel, Matthew Wakeling, Mary N Dang
Publikováno v:
Proceedings of the National Academy of Sciences of the U.S.A., 115(5), 1027-1032. National Academy of Sciences
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America
Significance We report a disease-causing mutation in the β-cell–enriched MAFA transcription factor. Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin-producing neuroendocrine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395166a736d18a84f19916684afa9d59
https://pure.eur.nl/en/publications/1d812ddf-7bdc-4c3a-9aa5-51f5702706e8
https://pure.eur.nl/en/publications/1d812ddf-7bdc-4c3a-9aa5-51f5702706e8
Autor:
Serban, Radian, Yoan, Diekmann, Plamena, Gabrovska, Brendan, Holland, Lisa, Bradley, Helen, Wallace, Karen, Stals, Anna-Marie, Bussell, Karen, McGurren, Martin, Cuesta, Anthony W, Ryan, Maria, Herincs, Laura C, Hernández-Ramírez, Aidan, Holland, Jade, Samuels, Elena Daniela, Aflorei, Sayka, Barry, Judit, Dénes, Ida, Pernicova, Craig E, Stiles, Giampaolo, Trivellin, Ronan, McCloskey, Michal, Ajzensztejn, Noina, Abid, Scott A, Akker, Moises, Mercado, Mark, Cohen, Rajesh V, Thakker, Stephanie, Baldeweg, Ariel, Barkan, Madalina, Musat, Miles, Levy, Stephen M, Orme, Martina, Unterländer, Joachim, Burger, Ajith V, Kumar, Sian, Ellard, Joseph, McPartlin, Ross, McManus, Gerard J, Linden, Brew, Atkinson, David J, Balding, Amar, Agha, Chris J, Thompson, Steven J, Hunter, Mark G, Thomas, Patrick J, Morrison, Márta, Korbonits
Publikováno v:
Human Mutation
The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304* (or p.R304*; NM_003977.3:c.910C>T, p.Arg304Ter) identified in Northern Ireland (NI) predisposes to acromegaly/gigantism; its population health impact remains unexplored. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9af8a1a6fe52e59f49cac405513d4308
https://ora.ox.ac.uk/objects/uuid:1f13d64e-181e-46e2-8379-7a2302d18583
https://ora.ox.ac.uk/objects/uuid:1f13d64e-181e-46e2-8379-7a2302d18583
Autor:
Francisca, Caimari, Laura Cristina, Hernández-Ramírez, Mary N, Dang, Plamena, Gabrovska, Donato, Iacovazzo, Karen, Stals, Sian, Ellard, Márta, Korbonits
Publikováno v:
Journal of Medical Genetics
Background Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbon receptor-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a73f251b02e614defb3f7e74dbc21bed
https://pubmed.ncbi.nlm.nih.gov/29440248
https://pubmed.ncbi.nlm.nih.gov/29440248
Autor:
Atik Baborie, Richard Quinton, Tara Kearney, Alessia David, David J. Balding, Giorgia Grassi, Karen Stals, Donato Iacovazzo, Yoan Diekmann, Plamena Gabrovska, Daniel du Plessis, Mark G. Thomas, Sian Ellard, Astrid Weber, Roberto Salvatori, Philippe Chanson, Anne Lise Lecoq, Serban Radian, Ajay Sinha, Anna Marie Bussell, Elizabeth Crowne, Valentina Corazzini, Márta Korbonits, Olaf Ansorge, Lou Metherell, Peter J Trainer
Objective Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d283898d8ebc55f9b93f99b5049800
http://hdl.handle.net/10044/1/53142
http://hdl.handle.net/10044/1/53142
Autor:
Roberto, Salvatori, Serban, Radian, Yoan, Diekmann, Donato, Iacovazzo, Alessia, David, Plamena, Gabrovska, Giorgia, Grassi, Anna-Marie, Bussell, Karen, Stals, Astrid, Weber, Richard, Quinton, Elizabeth C, Crowne, Valentina, Corazzini, Lou, Metherell, Tara, Kearney, Daniel, Du Plessis, Ajay Kumar, Sinha, Atik, Baborie, Anne-Lise, Lecoq, Philippe, Chanson, Olaf, Ansorge, Sian, Ellard, Peter J, Trainer, David, Balding, Mark G, Thomas, Márta, Korbonits
Publikováno v:
European Journal of Endocrinology
Objective Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a3748e3d71620b7e635e2dac7b1ff33
https://pubmed.ncbi.nlm.nih.gov/28634279
https://pubmed.ncbi.nlm.nih.gov/28634279
Autor:
Pinaki Dutta, Maria Alevizaki, Plamena Gabrovska, Francesca Lugli, Donato Iacovazzo, Patrick J. Morrison, Sian Ellard, Mary N Dang, Wazir K. Afghan, Julian R. Sampson, William D. Foulkes, Marinis Laura De, Márta Korbonits, Maralyn Druce, Martina M Owens
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e11505e6f5e0e4a6cea137dcf63a07ed
https://doi.org/10.1530/endoabs.44.p249
https://doi.org/10.1530/endoabs.44.p249
Autor:
Bence Sipos, Roland Stein, Sarah E. Flanagan, Plamena Gabrovska, Matthew Wakeling, Philippe Chanson, Min Guo, Günter Klöppel, Emanuel Christ, Emily M. Walker, Michael Brändle, Sian Ellard, Andrea Frilling, Herr Wouter de, Björn Konukiewitz, Stefan Jenni, Maike Nieser, Donato Iacovazzo, Mary N Dang, Richard Caswell, Bruno Niederle, Márta Korbonits, Ketan Dhatariya, Matthew C. Johnson
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e6d64b852de91b1ca9e54d24ffdc2ef
https://doi.org/10.1530/endoabs.44.oc1.5
https://doi.org/10.1530/endoabs.44.oc1.5
Autor:
Donato Iacovazzo, Karen Stals, Joachim Burger, Serban Radian, Ana Laura Espinosa-de-los-Monteros, Claudia Ramírez-Rentería, Márta Korbonits, Baldomero González, Virgilio Melgar, Laura C. Hernández-Ramírez, Mary Dang, Martina Unterländer, Sian Ellard, Federico Roncaroli, Sonal Kapur, Lesly A Portocarrero-Ortiz, Etual Espinosa, Plamena Gabrovska, Anne-Marie Bussell, Sergio Zúñiga, Guadalupe Vargas, Ernesto Sosa, Moisés Mercado
Publikováno v:
Endocrine. 53(2)
Although aryl hydrocarbon receptor-interacting protein (AIP) mutations are rare in sporadic acromegaly, their prevalence among young patients is nonnegligible. The objectives of this study were to evaluate the frequency of AIP mutations in a cohort o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5565a7b4d542b020f149a6fffe7a60
https://pubmed.ncbi.nlm.nih.gov/27981517
https://pubmed.ncbi.nlm.nih.gov/27981517
Autor:
Federico Roncaroli, Mary Lee Vance, Catherine S. Choong, Mary N Dang, Moisés Mercado, Sonal Kapur, Richard Caswell, Francesco Ferraù, Plamena Gabrovska, Francisca Caimari, Benjamin Bunce, Donato Iacovazzo, Sian Jose, Sian Ellard, Marta Korbonits, Claudia Ramírez, Celia Rodd, Christine P Burren, Julian R. Sampson, Pinaki Dutta, Anthony P. Goldstone, Michael Buchfelder, Laura C. Hernández-Ramírez, Tim Cheetham
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27fd22484753f6ce855d7388259ddde
https://doi.org/10.1530/endoabs.38.p306
https://doi.org/10.1530/endoabs.38.p306