Search Results - "Lim, Eugénie S"

Generation of TWO iPSC lines (CRICKi009-A; CRICKi010-A) from patients with type 1 von Hippel-Lindau (VHL) and histopathologically confirmed renal cell carcinoma (RCC) by Devito, Liani G., Lim, Eugénie S., O’Toole, Samuel M., Shepherd, Scott T.C., Deng, Daqi, Feng, Hugang, Barber, Taja, Drake, William M., Turajlic, Samra, Healy, Lyn

“…VHL disease is an inherited and autosomal dominant disorder affecting 1 in 36,0000 individuals worldwide. It is caused by von Hippel-Lindau (VHL) gene…”
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Haemodynamic instability of the phaeochromocytoma by Lim, Eugénie S, Akker, Scott A

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Short-term changes in liver tests predict long-term mortality by Saffouri, Eliana, Lim, Eugénie S, Kim, Susan W, Hakendorf, Paul, Thompson, Campbell H

“…ObjectiveTo determine whether short-term changes in liver tests (bilirubin, albumin, gamma glutamyl transferase, alkaline phosphatase, alanine aminotransferase…”
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Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring by Davidoff, Dahlia F., Lim, Eugenie S, Benn, Diana E, Subramaniam, Yuvanaa, Dorman, Eleanor, Burgess, John R, Akker, Scott A, Clifton-Bligh, Roderick J.

“…Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for…”
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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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Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma by Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C, López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D, Galvez, María A, Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S, Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M J, Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, Cascón, Alberto

“…The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen…”
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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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The Importance of Recognizing a Locally Advanced Pheochromocytoma by Lim, Eugenie S, Akker, Scott A

“…Key Words: locally advanced pheochromocytoma, metastatic pheochromocytoma, prognostic factor, recurrence-free survival…”
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Adverse skeletal related events in patients with bone-metastatic pheochromocytoma/paraganglioma by Laganà, Marta, Habra, Mouhammed Amir, Remde, Hanna, Almeida, Madson Q., Cosentini, Deborah, Pusceddu, Sara, Grana, Chiara Maria, Corssmit, Eleonora P.M., Bongiovanni, Alberto, De Filpo, Giuseppina, Lim, Eugenie S., Zamparini, Manuel, Grisanti, Salvatore, Deutschbein, Timo, Fassnacht, Martin, Fagundes, Gustavo F.C., Pereira, Maria Adelaide A., Oldani, Simone, Rota, Simone, Prinzi, Natalie, Jimenez, Camilo, Berruti, Alfredo

“…Metastatic pheochromocytomas and paragangliomas (PPGLs) are frequently associated with skeletal complications. Primary objective: to describe the frequency of…”
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Outcomes of Patients with Nelson's Syndrome after Primary Treatment: A Multicenter Study from 13 UK Pituitary Centers by Fountas, Athanasios, Lim, Eugenie S, Drake, William M, Powlson, Andrew S, Gurnell, Mark, Martin, Niamh M, Seejore, Khyatisha, Murray, Robert D, MacFarlane, James, Ahluwalia, Rupa, Swords, Francesca, Ashraf, Muhammad, Pal, Aparna, Chong, Zhuomin, Freel, Marie, Balafshan, Tala, Purewal, Tejpal S, Speak, Rowena G, Newell-Price, John, Higham, Claire E, Hussein, Ziad, Baldeweg, Stephanie E, Dales, Jolyon, Reddy, Narendra, Levy, Miles J, Karavitaki, Niki

“…Long-term outcomes of patients with Nelson's syndrome (NS) have been poorly explored, especially in the modern era. To elucidate tumor control rates,…”
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Impact of thyroiditis on 131I uptake during ablative therapy for differentiated thyroid cancer by Lim, Eugenie S, Shah, Shanty G, Waterhouse, Mona, Akker, Scott, Drake, William, Plowman, Nick, Berney, Daniel M, Richards, Polly, Adams, Ashok, Nowosinska, Ewa, Brennan, Carmel, Druce, Maralyn

“…Context Differentiated thyroid cancer (DTC) is usually treated by thyroidectomy followed by radioiodine ablation and generally has a good prognosis. It may now…”
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