Search Results - "Tufton, Nicola"

International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers by Amar, Laurence, Pacak, Karel, Steichen, Olivier, Akker, Scott A., Aylwin, Simon J. B., Baudin, Eric, Buffet, Alexandre, Burnichon, Nelly, Clifton-Bligh, Roderick J., Dahia, Patricia L. M., Fassnacht, Martin, Grossman, Ashley B., Herman, Philippe, Hicks, Rodney J., Januszewicz, Andrzej, Jimenez, Camilo, Kunst, Henricus P. M., Lewis, Dylan, Mannelli, Massimo, Naruse, Mitsuhide, Robledo, Mercedes, Taïeb, David, Taylor, David R., Timmers, Henri J. L. M., Treglia, Giorgio, Tufton, Nicola, Young, William F., Lenders, Jacques W. M., Gimenez-Roqueplo, Anne-Paule, Lussey-Lepoutre, Charlotte

“…Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase ( SDHx )…”
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Can subunit‐specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers? by Tufton, Nicola, Sahdev, Anju, Drake, William M., Akker, Scott A.

“…Summary Objective With the discovery that familial phaeochromocytoma and paraganglioma syndrome can be caused by mutations in each subunit of the succinate…”
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Radiological Surveillance Screening in Asymptomatic Succinate Dehydrogenase Mutation Carriers by Tufton, Nicola, Sahdev, Anju, Akker, Scott A

“…There has been a significant increase in the availability of testing for pheochromocytoma and paraganglioma (PPGL) germline susceptibility genes. As more…”
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A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide by Chatzikyriakou, Prodromos, Brempou, Dimitria, Quinn, Mark, Fishbein, Lauren, Noberini, Roberta, Anastopoulos, Ioannis N, Tufton, Nicola, Lim, Eugenie S, Obholzer, Rupert, Hubbard, Johnathan G, Moonim, Mufaddal, Bonaldi, Tiziana, Nathanson, Katherine L, Izatt, Louise, Oakey, Rebecca J

“…Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes;…”
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First-positive surveillance screening in an asymptomatic SDHA germline mutation carrier by White, Gemma, Tufton, Nicola, Akker, Scott A

“…Summary At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic…”
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A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma by Maher, Michelle, Roncaroli, Federico, Mendoza, Nigel, Meeran, Karim, Canham, Natalie, Kosicka-Slawinska, Monika, Bernhard, Birgitta, Collier, David, Drummond, Juliana, Skordilis, Kassiani, Tufton, Nicola, Gontsarova, Anastasia, Martin, Niamh, Korbonits, Márta, Wernig, Florian

“…Summary Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas…”
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An analysis of surveillance screening for SDHB-related disease in childhood and adolescence by Tufton, Nicola, Shapiro, Lucy, Sahdev, Anju, Kumar, Ajith V, Martin, Lee, Drake, William M, Akker, Scott A, Storr, Helen L

“…Objective Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare in children. A large proportion of these are now understood to be due to underlying…”
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Prevalence of Diabetes on Santa Cruz Island in Galapagos Archipelago by Tufton, Nicola, Chowdhury, Tahseen

“…This was an observational study offering a screening program for diabetes in a health clinic in Puerto Ayora town on Santa Cruz Island to determine the…”
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Consensus on molecular imaging and theranostics in neuroendocrine neoplasms by Ambrosini, Valentina, Kunikowska, Jolanta, Baudin, Eric, Bodei, Lisa, Bouvier, Catherine, Capdevila, Jaume, Cremonesi, Marta, de Herder, Wouter W., Dromain, Clarisse, Falconi, Massimo, Fani, Melpomeni, Fanti, Stefano, Hicks, Rodney J., Kabasakal, Levent, Kaltsas, Gregory, Lewington, Val, Minozzi, Silvia, Cinquini, Michela, Öberg, Kjell, Oyen, Wim. J.G., O'Toole, Dermot, Pavel, Marianne, Ruszniewski, Philippe, Scarpa, Aldo, Strosberg, Jonathan, Sundin, Anders, Taïeb, David, Virgolini, Irene, Wild, Damian, Herrmann, Ken, Yao, James

“…Nuclear medicine plays an increasingly important role in the management neuroendocrine neoplasms (NEN). Somatostatin analogue (SSA)-based positron emission…”
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Diffusion‐weighted imaging (DWI) highlights SDHB‐related tumours: A pilot study by Tufton, Nicola, White, Gemma, Drake, William M., Sahdev, Anju, Akker, Scott A.

“…Objective There is consensus that asymptomatic carriers of SDHB mutations should undergo periodic surveillance imaging. MRI has the advantage of avoiding…”
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Excluding the pheochromocytoma by Tufton, Nicola, Akker, Scott A.

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The immune cell infiltrate in the tumour microenvironment of phaeochromocytomas and paragangliomas by Tufton, N, Hearnden, R J, Berney, D M, Drake, W M, Parvanta, L, Chapple, J P, Akker, S A

“…Emerging evidence suggests the composition of the tumour microenvironment (TME) correlates with clinical outcome and that each tumour type has a unique TME…”
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Pituitary Carcinoma in a Patient with an SDHB Mutation by Tufton, Nicola, Roncaroli, Federico, Hadjidemetriou, Irene, Dang, Mary N, Dénes, Judit, Guasti, Leonardo, Thom, Maria, Powell, Michael, Baldeweg, Stephanie E, Fersht, Naomi, Korbonits, Márta

“…We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma…”
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SDHA mutated paragangliomas may be at high risk of metastasis by Tufton, Nicola, Ghelani, Rahul, Srirangalingam, Umasuthan, Kumar, Ajith V, Drake, William M, Iacovazzo, Donato, Skordilis, Kassiani, Berney, Daniel, Al-Mrayat, Ma’en, Khoo, Bernard, Akker, Scott A

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Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers by Tufton, Nicola, Shapiro, Lucy, Srirangalingam, Umasuthan, Richards, Polly, Sahdev, Anju, Kumar, Ajith V., McAndrew, Lorraine, Martin, Lee, Berney, Daniel, Monson, John, Chew, Shern L., Waterhouse, Mona, Druce, Maralyn, Korbonits, Márta, Metcalfe, Karl, Drake, William M., Storr, Helen L., Akker, Scott A.

“…Summary Objective For ‘asymptomatic carriers’ of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the…”
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Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort by Winzeler, Bettina, Tufton, Nicola, Lim, Eugenie, Challis, Ben G., Park, Soo‐Mi, Izatt, Louise, Carroll, Paul V., Velusamy, Anand, Hulse, Tony, Whitelaw, Benjamin C., Martin, Ezequiel, Rodger, Fay, Maranian, Melanie, Clark, Graeme R., Akker, Scott, Maher, Eamonn R., Casey, Ruth T.

“…Objectives Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of…”
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Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature by Bancos, Irina, Atkinson, Elizabeth, Eng, Charis, Young, William F, Neumann, Hartmut P H, Yukina, Marina, Cohen, Debbie L, Waguespack, Steven G, Pereira, Maria Adelaide Albergaria, He, Xin, Bandgar, Tushar, Donatini, Gianluca, Qi, Xiao-Ping, Cohn, Aviva, Letizia, Claudio, Fishbein, Lauren, Kaur, Ravinder Jeet, Murad, Mohammad H, Gruber, Lucinda, Jimenez, Camilo, Petramala, Luigi, Beltsevich, Dmitry, Walz, Martin K, Corssmit, Eleonora P.M., Wohllk, Nelson, Links, Thera P, Ferrara, Alfonso Massimiliano, Tsoy, Uliana, Donegan, Diane, Peczkowska, Mariola, Timmers, Henri J, Ebbehoj, Andreas, Kirschner, Lawrence S, Kunavisarut, Tada, Larsson, Catharina, Kudlai, Inna, Hasse-Lazar, Kornelia, Barczyński, Marcin, Deutschbein, Timo, Rasmussen, Åse Krogh, Dvorakova, Sarka, Miller, Julie A, Liu, Longfei, Bennett, Bonita, Huang, Ya-Sheng, Yu, Zhi-xian, Kumar Jaiswal, Sanjeet, Shah, Nalini, Dullaart, Robin P.F, Akker, Scott A, Drake, William M, Boaretto, Francesca, Barbon, Giovanni, Taschin, Elisa, Schiavi, Francesca, Grineva, Elena, 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, Shafigullina, Zulfiya, Martins Bugalho, Maria João, Rizzati, Silvia, Fraenkel, Merav, Sherlock, Mark, Sarma, Dipti, Kaimal Saikia, Uma, Quinkler, Marcus, Zschiedrich, Stefan, 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

“…Phaeochromocytoma or paraganglioma (collectively known as PPGL) in pregnant women can lead to severe complications and death due to associated catecholamine…”
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SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series by Williams, Sophie T., Chatzikyriakou, Prodromos, Carroll, Paul V., McGowan, Barbara M., Velusamy, Anand, White, Gemma, Obholzer, Rupert, Akker, Scott, Tufton, Nicola, Casey, Ruth T., Maher, Eamonn R., Park, Soo‐Mi, Porteous, Mary, Dyer, Rebecca, Tan, Tricia, Wernig, Florian, Brady, Angela F., Kosicka‐Slawinska, Monika, Whitelaw, Benjamin C., Dorkins, Huw, Lalloo, Fiona, Brennan, Paul, Carlow, Joseph, Martin, Richard, Mitchell, Anna L., Harrison, Rachel, Hawkes, Lara, Newell‐Price, John, Kelsall, Alan, Igbokwe, Rebecca, Adlard, Julian, Schirwani, Schaida, Davidson, Rosemarie, Morrison, Patrick J., Chung, Teng‐Teng, Bowles, Christopher, Izatt, Louise

“…Objective Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are…”
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SUN-346 Diffusion Weighted Imaging (DWI) Highlights SDHB-Related Tumours: A Radiation Free Alternative for Surveillance Imaging by Tufton, Nicola, White, Gemma, Sahdev, Anju, Akker, Scott

“…Background There is general consensus that asymptomatic carriers of SDHB mutations should undergo periodic surveillance imaging. It is established that 68…”
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Alpha blockade—not to be underdone by Tufton, Nicola, Gunganah, Kirun, Hussain, Shazia, Druce, Maralyn, Carpenter, Robert, Ashby, Michael, Drake, William M., Akker, Scott A.

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