Detalhe da pesquisa
1.
Diagnosis and management of urinary bladder paragangliomas: A Sino-American-European retrospective observational study.
Clin Endocrinol (Oxf)
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38606576
2.
REGISTRI: Regorafenib in first-line of KIT/PDGFRA wild type metastatic GIST: a collaborative Spanish (GEIS), Italian (ISG) and French Sarcoma Group (FSG) phase II trial.
Mol Cancer
; 22(1): 127, 2023 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37559050
3.
Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition.
Int J Cancer
; 153(6): 1300-1312, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37260183
4.
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
J Med Genet
; 59(8): 785-792, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34452955
5.
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
Am J Hum Genet
; 104(4): 651-664, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929736
6.
Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.
Genet Med
; 23(4): 698-704, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442023
7.
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.
Am J Med Genet A
; 185(12): 3872-3876, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313384
8.
Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas.
J Pathol
; 251(4): 378-387, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462735
9.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
J Med Genet
; 57(11): 752-759, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996412
10.
PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma.
Int J Cancer
; 146(5): 1435-1444, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31335987
11.
Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing.
Int J Cancer
; 146(2): 521-530, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403184
12.
Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome.
Mod Pathol
; 33(12): 2580-2590, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32616874
13.
Plasma metanephrines and prospective prediction of tumor location, size and mutation type in patients with pheochromocytoma and paraganglioma.
Clin Chem Lab Med
; 59(2): 353-363, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001846
14.
Concomitant Medications and Risk of Chemotherapy-Induced Peripheral Neuropathy.
Oncologist
; 24(8): e784-e792, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30470691
15.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Genet Med
; 21(3): 705-717, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30050099
16.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
17.
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Genet Med
; 20(12): 1652-1662, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30008476
18.
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Genet Med
; 20(12): 1644-1651, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740169
19.
Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.
BMC Cancer
; 18(1): 561, 2018 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764404
20.
Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus.
J Natl Compr Canc Netw
; 16(4): 352-358, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632054