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Precision Medicine in Phaeochromocytoma and Paraganglioma.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1239, doi. 10.3390/jpm11111239
By:
- Winzeler, Bettina;
- Challis, Benjamin G.;
- Casey, Ruth T.
Publication type:
Article
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1330, doi. 10.1002/ajmg.a.61163
By:
- Truelove, Adam;
- Mulay, Akhilesh;
- Prapa, Matina;
- Casey, Ruth T.;
- Adler, Amanda I.;
- Offiah, Amaka C.;
- Poole, Kenneth E. S.;
- Trotman, Jamie;
- Al Hasso, Namir;
- Park, Soo‐Mi
Publication type:
Article
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Published in:
2017
By:
- Casey, Ruth T;
- Warren, Anne Y;
- Rodrigues, Jose Ezequiel;
- Challis, Benjamin G;
- Rattenberry, Eleanor;
- Whitworth, James;
- Andrews, Katrina A;
- Roberts, Thomas;
- Clark, Graeme R;
- West, Hannah;
- Smith, Philip S;
- Docquier, France M;
- Rodger, Fay;
- Murray, Vicki;
- Simpson, Helen L;
- Wallis, Yvonne;
- Giger, Olivier;
- Tran, Maxine;
- Tomkins, Susan;
- Stewart, Grant D
Publication type:
journal article
Peptidomic analysis of endogenous plasma peptides from patients with pancreatic neuroendocrine tumours.
Published in:
Rapid Communications in Mass Spectrometry: RCM, 2018, v. 32, n. 16, p. 1414, doi. 10.1002/rcm.8183
By:
- Kay, Richard G.;
- Challis, Benjamin G.;
- Casey, Ruth T.;
- Roberts, Geoffrey P.;
- Meek, Claire L.;
- Reimann, Frank;
- Gribble, Fiona M.
Publication type:
Article
ENDOCRINOLOGY IN THE TIME OF COVID-19: Clinical management of neuroendocrine neoplasms (NENs).
Published in:
European Journal of Endocrinology, 2020, v. 183, n. 2, p. G79, doi. 10.1530/EJE-20-0424
By:
- Casey, Ruth T.;
- Valk, Gerlof D.;
- Schalin-Jäntti, Camilla;
- Grossman, Ashley B.;
- Thakker, Rajesh V.
Publication type:
Article
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46124-9
By:
- Casey, Ruth T.;
- ten Hoopen, Rogier;
- Ochoa, Eguzkine;
- Challis, Benjamin G.;
- Whitworth, James;
- Smith, Philip S.;
- Martin, Jose Ezequiel;
- Clark, Graeme R.;
- Rodger, Fay;
- Maranian, Mel;
- Allinson, Kieren;
- Madhu, Basetti;
- Roberts, Thomas;
- Campos, Luis;
- Anstee, Joanne;
- Park, Soo-Mi;
- Marker, Alison;
- Watts, Colin;
- Bulusu, Venkata R.;
- Giger, Olivier T.
Publication type:
Article
The role of [68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST).
Published in:
EJNMMI Research, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13550-021-00747-0
By:
- Aloj, Luigi;
- Giger, Olivier;
- Mendichovszky, Iosif A.;
- Challis, Ben G.;
- Ronel, Meytar;
- Harper, Ines;
- Cheow, Heok;
- Hoopen, Rogier ten;
- Pitfield, Deborah;
- Gallagher, Ferdia A.;
- Attili, Bala;
- McLean, Mary;
- Jones, Robin L.;
- Dileo, Palma;
- Bulusu, Venkata Ramesh;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 237, doi. 10.1002/mgg3.279
By:
- Casey, Ruth T.;
- Ascher, David B.;
- Rattenberry, Eleanor;
- Izatt, Louise;
- Andrews, Katrina A.;
- Simpson, Helen L.;
- Challis, Benjamen;
- Park, Soo‐Mi;
- Bulusu, Venkata R.;
- Lalloo, Fiona;
- Pires, Douglas E. V.;
- West, Hannah;
- Clark, Graeme R.;
- Smith, Philip S.;
- Whitworth, James;
- Papathomas, Thomas G.;
- Taniere, Phillipe;
- Savisaar, Rosina;
- Hurst, Laurence D.;
- Woodward, Emma R.
Publication type:
Article
The use of temozolomide in paediatric metastatic phaeochromocytoma/ paraganglioma: A case report and literature review.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1066208
By:
- Urquhart, Calum;
- Fleming, Ben;
- Harper, Ines;
- Aloj, Luigi;
- Armstrong, Ruth;
- Hook, Liz;
- Long, Anna-May;
- Jackson, Claire;
- Gallagher, Ferdia A.;
- McLean, Mary A.;
- Tarpey, Patrick;
- Kosmoliaptsis, Vasilis;
- Nicholson, James;
- Hendriks, A. Emile J.;
- Casey, Ruth T.
Publication type:
Article
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Published in:
Clinical Endocrinology, 2022, v. 97, n. 4, p. 448, doi. 10.1111/cen.14639
By:
- Winzeler, Bettina;
- Tufton, Nicola;
- S. 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.;
- A. Akker, Scott;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article
SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series.
Published in:
Clinical Endocrinology, 2022, v. 96, n. 4, p. 499, doi. 10.1111/cen.14594
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
Publication type:
Article
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
Published in:
Clinical Endocrinology, 2020, v. 93, n. 5, p. 528, doi. 10.1111/cen.14289
By:
- MacFarlane, James;
- Seong, Keat Cheah;
- Bisambar, Chad;
- Madhu, Basetti;
- Allinson, Kieren;
- Marker, Alison;
- Warren, Anne;
- Park, Soo‐Mi;
- Giger, Olivier;
- Challis, Benjamin G.;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article
Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Published in:
Clinical Endocrinology, 2020, v. 93, n. 4, p. 409, doi. 10.1111/cen.14254
By:
- Mariathasan, Sashi;
- Andrews, Katrina A.;
- Thompson, Edward;
- Challis, Ben G.;
- Wilcox, Sarah;
- Pierce, Heather;
- Hale, Julia;
- Spiden, Sarah;
- Fuller, Gavin;
- Simpson, Helen L.;
- Fish, Brian;
- Jani, Piyush;
- Seetho, Ian;
- Armstrong, Ruth;
- Izatt, Louise;
- Joshi, Mamta;
- Velusamy, Anand;
- Park, Soo‐Mi;
- Casey, Ruth T.
Publication type:
Article
What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1?
Published in:
Clinical Endocrinology, 2019, v. 91, n. 6, p. 708, doi. 10.1111/cen.14094
By:
- Challis, Benjamin G.;
- Casey, Ruth T.;
- Grossman, Ashley;
- Newell‐Price, John;
- Newey, Paul;
- Thakker, Rajesh V.
Publication type:
Article
Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.
Published in:
Clinical Endocrinology, 2019, v. 90, n. 4, p. 499, doi. 10.1111/cen.13926
By:
- Wong, Mei Yin;
- Andrews, Katrina A.;
- Challis, Benjamin G.;
- Park, Soo‐Mi;
- Acerini, Carlo L.;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article

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