Detalhe da pesquisa
1.
EPAS1-mutated paragangliomas associated with haemoglobin disorders.
Br J Haematol
; 204(3): 1054-1060, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38195958
2.
New advances in endocrine hypertension: from genes to biomarkers.
Kidney Int
; 103(3): 485-500, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36646167
3.
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
Inglês
| MEDLINE | ID: mdl-34452955
4.
Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.
Mod Pathol
; 35(3): 352-360, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34531523
5.
An update on adult forms of hereditary pheochromocytomas and paragangliomas.
Curr Opin Oncol
; 33(1): 23-32, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33186184
6.
Succinate dehydrogenase deficiency in a chromaffin cell model retains metabolic fitness through the maintenance of mitochondrial NADH oxidoreductase function.
FASEB J
; 34(1): 303-315, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31914648
7.
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
Inglês
| MEDLINE | ID: mdl-31996412
8.
Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study.
Mod Pathol
; 33(1): 57-64, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31383958
9.
Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas.
Eur J Nucl Med Mol Imaging
; 47(6): 1510-1517, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31834447
10.
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
J Med Genet
; 56(8): 513-520, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30877234
11.
[Pathologist contribution in the diagnosis of hereditary predisposition to paranganglioma and pheochromocytoma]. / Apport du pathologiste dans les prédispositions héréditaires aux paragangliomes et phéochromocytomes.
Ann Pathol
; 40(2): 134-141, 2020 Apr.
Artigo
Francês
| MEDLINE | ID: mdl-32146049
12.
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.
Genet Med
; 20(12): 1652-1662, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30008476
13.
Rodent models of pheochromocytoma, parallels in rodent and human tumorigenesis.
Cell Tissue Res
; 372(2): 379-392, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29427052
14.
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
J Med Genet
; 54(2): 125-133, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27856506
15.
The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas.
Neuroendocrinology
; 105(4): 384-393, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28122379
16.
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Hum Mol Genet
; 23(9): 2440-6, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24334767
17.
Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling.
Biochim Biophys Acta
; 1837(8): 1330-7, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24699309
18.
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Mod Pathol
; 28(6): 807-21, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25720320
19.
Oncometabolites-driven tumorigenesis: From genetics to targeted therapy.
Int J Cancer
; 135(10): 2237-48, 2014 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25124653
20.
SDHB mutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma.
Int J Cancer
; 135(11): 2711-20, 2014 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24752622