Detalhe da pesquisa
1.
Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Nature
; 609(7929): 1021-1028, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131014
2.
The molecular landscape of ETMR at diagnosis and relapse.
Nature
; 576(7786): 274-280, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31802000
3.
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
J Med Genet
; 61(3): 284-288, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748860
4.
Tumor mutational burden assessment and standardized bioinformatics approach using custom NGS panels in clinical routine.
BMC Biol
; 22(1): 43, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378561
5.
Pathogenic alterations in PIK3CA and KMT2C are frequent and independent prognostic factors in anal squamous cell carcinoma treated with salvage abdominoperineal resection.
Int J Cancer
; 154(3): 504-515, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908048
6.
Molecular and Clinical Portrait of HER2-low Invasive Lobular Carcinomas.
Mod Pathol
; 37(5): 100463, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428737
7.
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication.
J Med Genet
; 60(12): 1206-1209, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37263769
8.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
J Med Genet
; 60(12): 1198-1205, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402566
9.
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Neuropathol Appl Neurobiol
; 49(4): e12929, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37524406
10.
Robust methylation-based classification of brain tumours using nanopore sequencing.
Neuropathol Appl Neurobiol
; 49(1): e12856, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269599
11.
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Clin Genet
; 104(1): 107-113, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974006
12.
Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification.
Acta Neuropathol
; 145(5): 651-666, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37014508
13.
Molecular characterisation of tumours of the lacrimal apparatus.
Histopathology
; 83(6): 925-935, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37706251
14.
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Nature
; 612(7940): E12, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446943
15.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
J Med Genet
; 2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768194
16.
Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas.
Genes Chromosomes Cancer
; 61(4): 200-205, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877752
17.
Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.
Mod Pathol
; 35(11): 1624-1635, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697931
18.
SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type.
J Pathol
; 255(1): 1-15, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999421
19.
Atypical evolution of meningiomatosis after discontinuation of cyproterone acetate: clinical cases and histomolecular characterization.
Acta Neurochir (Wien)
; 164(1): 255-263, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34613529
20.
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.
Acta Neuropathol
; 141(2): 291-301, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331994