Germline mutations in TMEM127 confer susceptibility to pheochromocytoma Y Qin, L Yao, EE King, K Buddavarapu, RE Lenci, ES Chocron, ... Nature genetics 42 (3), 229-233, 2010 | 449 | 2010 |
Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study AF Daly, MA Tichomirowa, P Petrossians, E Heliovaara, ML Jaffrain-Rea, ... The Journal of Clinical Endocrinology & Metabolism 95 (11), E373-E383, 2010 | 395 | 2010 |
Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS N Agrawal, Y Jiao, M Sausen, R Leary, C Bettegowda, NJ Roberts, ... The Journal of Clinical Endocrinology & Metabolism 98 (2), E364-E369, 2013 | 269 | 2013 |
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas L Yao, F Schiavi, A Cascon, Y Qin, L Inglada-Pérez, EE King, RA Toledo, ... Jama 304 (23), 2611-2619, 2010 | 235 | 2010 |
Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas RA Toledo, N Burnichon, A Cascon, DE Benn, JP Bayley, J Welander, ... Nature Reviews Endocrinology 13 (4), 233-247, 2017 | 203 | 2017 |
Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population … F Castinetti, XP Qi, MK Walz, AL Maia, G Sansó, M Peczkowska, ... The Lancet Oncology 15 (6), 648-655, 2014 | 175 | 2014 |
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 K Frank‐Raue, LA Rybicki, Z Erlic, H Schweizer, A Winter, I Milos, ... Human mutation 32 (1), 51-58, 2011 | 160 | 2011 |
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma S Toledo, DM Lourenço Jr, MA Santos, MR Tavares, RA Toledo, ... Clinics 64, 699-706, 2009 | 144 | 2009 |
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas RA Toledo, Y Qin, S Srikantan, NP Morales, Q Li, Y Deng, SW Kim, ... Endocrine-related cancer 20 (3), 349, 2013 | 139 | 2013 |
Recurrent mutations of chromatin-remodeling genes and kinase receptors in pheochromocytomas and paragangliomas RA Toledo, Y Qin, ZM Cheng, Q Gao, S Iwata, GM Silva, ML Prasad, ... Clinical Cancer Research 22 (9), 2301-2310, 2016 | 133 | 2016 |
Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma RA Toledo, DM Lourenco Jr, B Liberman, MBC Cunha-Neto, ... The Journal of Clinical Endocrinology & Metabolism 92 (5), 1934-1937, 2007 | 105 | 2007 |
The impact of clinical and genetic screenings on the management of the multiple endocrine neoplasia type 1 DM Lourenço-Jr, RA Toledo, FL Coutinho, LC Margarido, SAC Siqueira, ... Clinics 62, 465-470, 2007 | 90 | 2007 |
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism DM Lourenço Jr, FL Coutinho, RA Toledo, FLM Montenegro, ... Journal of Bone and Mineral Research 25 (11), 2382-2391, 2010 | 87 | 2010 |
Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile DM Lourenço Jr, RA Toledo, II Mackowiak, FL Coutinho, MG Cavalcanti, ... European journal of endocrinology 159 (3), 259-274, 2008 | 82 | 2008 |
Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life TD Gonçalves, RA Toledo, T Sekiya, SE Matuguma, F Maluf Filho, ... The Journal of Clinical Endocrinology & Metabolism 99 (1), E89-E96, 2014 | 71 | 2014 |
Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2 SP de Almeida Toledo, MACG dos Santos, R de Almeida Toledo, ... Clinics 61 (1), 59-70, 2006 | 70 | 2006 |
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation SPA Toledo, DM Lourenço Jr, T Sekiya, AM Lucon, MES Baena, ... The Journal of Clinical Endocrinology & Metabolism 100 (2), E308-E318, 2015 | 64 | 2015 |
Clinical validation of prospective liquid biopsy monitoring in patients with wild-type RAS metastatic colorectal cancer treated with FOLFIRI-cetuximab RA Toledo, A Cubillo, E Vega, E Garralda, R Alvarez, LU de la Varga, ... Oncotarget 8 (21), 35289, 2017 | 61 | 2017 |
High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the RET Protooncogene RA Toledo, SM Wagner, FL Coutinho, DM Lourenço Jr, JA Azevedo, ... The Journal of Clinical Endocrinology & Metabolism 95 (3), 1318-1327, 2010 | 59 | 2010 |
Pituitary tumors in patients with MEN1 syndrome LV Syro, BW Scheithauer, K Kovacs, RA Toledo, FJ Londono, LD Ortiz, ... Clinics 67, 43-48, 2012 | 58 | 2012 |