Detalhe da pesquisa
1.
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Hum Mol Genet
; 32(22): 3135-3145, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561409
2.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Am J Med Genet A
; 191(2): 490-497, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513625
3.
A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau.
J Med Genet
; 59(1): 18-22, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33067352
4.
Characterization of genetically defined sporadic and hereditary type 1 papillary renal cell carcinoma cell lines.
Genes Chromosomes Cancer
; 60(6): 434-446, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527590
5.
Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families.
Hum Mutat
; 42(5): 520-529, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675279
6.
Novel renal medullary carcinoma cell lines, UOK353 and UOK360, provide preclinical tools to identify new therapeutic treatments.
Genes Chromosomes Cancer
; 59(8): 472-483, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32259323
7.
H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
Hum Mol Genet
; 26(2): 354-366, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007907
8.
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
N Engl J Med
; 374(2): 135-45, 2016 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26536169
9.
Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma.
Genes Chromosomes Cancer
; 56(6): 484-492, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196407
10.
Genomic and metabolic characterization of a chromophobe renal cell carcinoma cell line model (UOK276).
Genes Chromosomes Cancer
; 56(10): 719-729, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28736828
11.
Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt-Hogg-Dubé tumors.
Mod Pathol
; 28(11): 1458-69, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26428318
12.
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer.
J Urol
; 189(2): 430-5, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22982371
13.
Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.
J Urol
; 190(6): 1990-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23764071
14.
Rilotumumab Resistance Acquired by Intracrine Hepatocyte Growth Factor Signaling.
Cancers (Basel)
; 15(2)2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672409
15.
PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Urology
; 179: 58-70, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331486
16.
TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.
EMBO Mol Med
; 15(5): e16877, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987696
17.
High-throughput and targeted drug screens identify pharmacological candidates against MiT-translocation renal cell carcinoma.
J Exp Clin Cancer Res
; 42(1): 99, 2023 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095531
18.
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
J Urol
; 188(6): 2063-71, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23083876
19.
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
Genes Chromosomes Cancer
; 50(6): 466-77, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412933
20.
Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).
PLoS One
; 17(12): e0278108, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36455002