Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Tufton, A."'
Autor:
Prodromos Chatzikyriakou, Dimitria Brempou, Mark Quinn, Lauren Fishbein, Roberta Noberini, Ioannis N. Anastopoulos, Nicola Tufton, Eugenie S. Lim, Rupert Obholzer, Johnathan G. Hubbard, Mufaddal Moonim, Tiziana Bonaldi, Katherine L. Nathanson, Louise Izatt, Rebecca J. Oakey
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours are grouped into three Clusters, reinforced by their
Externí odkaz:
https://doaj.org/article/66cb18fe933b4376a23415ba736e406b
Autor:
Yukina, Marina, Cohen, Debbie L, Waguespack, Steven G, Pereira, Maria Adelaide Albergaria, He, Xin, Bandgar, Tushar, Donatini, Gianluca, Qi, Xiao-Ping, Cohn, Aviva, Roslyakova, Anna, Letizia, Claudio, Fishbein, Lauren, Kaur, Ravinder Jeet, Iniguez-Ariza, Nicole, Murad, Mohammad H, Gruber, Lucinda, Wachtel, Heather, Cherenko, Sergiy, Jimenez, Camilo, Else, Tobias, Ramteke-Jadhav, Swati, Fang, Xu-dong, Vaidya, Anand, Petramala, Luigi, Beltsevich, Dmitry, Walz, Martin K, Corssmit, Eleonora P.M., Wohllk, Nelson, Tufton, Nicola, Links, Thera P, Ferrara, Alfonso Massimiliano, Tsoy, Uliana, Donegan, Diane, Peczkowska, Mariola, Timmers, Henri J, Morelli, Valentina, Ebbehoj, Andreas, Kirschner, Lawrence S, Kunavisarut, Tada, Larsson, Catharina, Kudlai, Inna, Hasse-Lazar, Kornelia, Barczyński, Marcin, Deutschbein, Timo, Langton, Katharina, Rasmussen, Åse Krogh, Dvorakova, Sarka, Miller, Julie A, Liu, Longfei, Bennett, Bonita, Huang, Ya-Sheng, Yu, Zhi-xian, Kumar Jaiswal, Sanjeet, Shah, Nalini, Diaz, Rene E, Dullaart, Robin P.F, Akker, Scott A, Drake, William M, Boaretto, Francesca, Zovato, Stefania, Barbon, Giovanni, Taschin, Elisa, Schiavi, Francesca, Grineva, Elena, Rappaport, Maximilien, Skierczynski, Paul, Fassnacht, Martin, Calissendorff, Jan, Juhlin, C Christofer, Vlĕek, Petr, Li, Minghao, Jonasch, Eric, Prokop, Larry, Jovanovic, Milan, Lechan, Ronald M, Erenler, Feyza, Garla, Vishnu, Bobryk, Maryna, Kovalenko, Andrey Y, Hodson, Emma, Jenner, Bernadette, Simpson, Helen L, Casey, Ruth T, Gimm, Oliver, Ngeow Yuen Yie, Joanne, Shafigullina, Zulfiya, Martins Bugalho, Maria João, Rizzati, Silvia, Fraenkel, Merav, Sherlock, Mark, Sarma, Dipti, Kaimal Saikia, Uma, Riester, Anna, Quinkler, Marcus, Zschiedrich, Stefan, Seufert, Jochen, Bausch, Birke, Zavrashvili, Nino, Søndergaard, Esben, Mathiesen, Jes Sloth, Robaczyk, Maciej G, Poulsen, Per Løgstrup, Vasilkova, Volha, Costa-Barbosa, Flavia A, Kater, Claudio E, Yildirim Simsir, Ilgin, Ugurlu, M. Umit, Soyaltin, Utku E, Makay, Özer, Ivanov, Nikita V, Opocher, Giuseppe, Egorov, Viacheslav I, Petrov, Roman, Khudiakova, Natalia V, Bancos, Irina *, Atkinson, Elizabeth, Eng, Charis, Young, William F, Jr, Neumann, Hartmut P H
Publikováno v:
In The Lancet Diabetes & Endocrinology January 2021 9(1):13-21
Akademický článek
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Akademický článek
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Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2019)
At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic landscape of these tumours has rapidly evolved, with 18 associated genes now identified. Among the
Externí odkaz:
https://doaj.org/article/e6582f8ab43948739a3d1eaa3ab572c8
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2019)
Mineralocorticoid hypertension is most often caused by autonomous overproduction of aldosterone, but excess of other mineralocorticoid precursors can lead to a similar presentation. 11-Deoxycorticosterone (DOC) excess, which can occur in 11-β hydr
Externí odkaz:
https://doaj.org/article/4e69c643969d4161bfb48ea844f7d5f6
Autor:
Nicola Tufton, Lucy Shapiro, Anju Sahdev, Ajith V Kumar, Lee Martin, William M Drake, Scott A Akker, Helen L Storr
Publikováno v:
Endocrine Connections, Vol 8, Iss 3, Pp 162-172 (2019)
Objective: Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare in children. A large proportion of these are now understood to be due to underlying germline mutations. Here we focus on succinate dehydrogenase subunit B (SDHB) gene mutation carr
Externí odkaz:
https://doaj.org/article/68bbf4cd517342d8b0c44037a12449ce
Autor:
Michelle Maher, Federico Roncaroli, Nigel Mendoza, Karim Meeran, Natalie Canham, Monika Kosicka-Slawinska, Birgitta Bernhard, David Collier, Juliana Drummond, Kassiani Skordilis, Nicola Tufton, Anastasia Gontsarova, Niamh Martin, Márta Korbonits, Florian Wernig
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas occur in a familial setting, either in isolated or syndromic form. Recently, loss-of-function mutati
Externí odkaz:
https://doaj.org/article/432ff9f908944922bd0b51d2bb4bceb6
Akademický článek
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Publikováno v:
The American Journal of the Medical Sciences. 365:S14-S15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c546369ea4e7a2eaf1efd4b5cbdc751b
https://doi.org/10.1016/s0002-9629(23)00036-8
https://doi.org/10.1016/s0002-9629(23)00036-8