Detalhe da pesquisa
1.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
J Med Genet
; 61(4): 378-384, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979962
2.
EPAS1-mutated paragangliomas associated with haemoglobin disorders.
Br J Haematol
; 204(3): 1054-1060, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195958
3.
A novel VCP::TFE3 gene fusion resulting from t(X;9)(p11.23;p13.3) chromosome translocation in TFE3 rearranged renal cancer cell carcinoma.
Genes Chromosomes Cancer
; 62(6): 361-366, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695651
4.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
5.
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
6.
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
em Inglês
| MEDLINE | ID: mdl-34531523
7.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906457
8.
Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.
Clin Endocrinol (Oxf)
; 96(6): 803-811, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750850
9.
MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features.
Mod Pathol
; 34(3): 647-659, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770124
10.
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options.
J Med Genet
; 57(2): 104-108, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352869
11.
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
12.
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
em Inglês
| MEDLINE | ID: mdl-31383958
13.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
14.
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
em Inglês
| MEDLINE | ID: mdl-31834447
15.
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
J Med Genet
; 56(8): 513-520, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877234
16.
Adrenal tumors: when to search for a germline abnormality?
Curr Opin Oncol
; 31(3): 230-235, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985498
17.
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
PLoS Genet
; 12(10): e1006367, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27792790
18.
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
19.
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.
J Med Genet
; 54(2): 125-133, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27856506
20.
Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.
Clin Endocrinol (Oxf)
; 86(3): 332-339, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27787920