Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
2.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
3.
DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification.
Neuropathol Appl Neurobiol
; 49(2): e12894, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843390
4.
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
Br J Cancer
; 127(1): 137-144, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35449451
5.
MRI Radiogenomics of Pediatric Medulloblastoma: A Multicenter Study.
Radiology
; 304(2): 406-416, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438562
6.
2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist.
Neuroradiology
; 64(10): 1919-1950, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869291
7.
Quantitative MRI susceptibility mapping reveals cortical signatures of changes in iron, calcium and zinc in malformations of cortical development in children with drug-resistant epilepsy.
Neuroimage
; 238: 118102, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34058334
8.
A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.
Neuropathol Appl Neurobiol
; 47(6): 882-888, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534137
9.
Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis.
Neuropathol Appl Neurobiol
; 47(6): 781-795, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33797808
10.
Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics.
Neuropathol Appl Neurobiol
; 47(6): 736-747, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33826763
11.
A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC).
Neuropathol Appl Neurobiol
; 47(3): 464-467, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325069
12.
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Epilepsia
; 62(6): 1416-1428, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949696
13.
Methylation-based algorithms for diagnosis: experience from neuro-oncology.
J Pathol
; 250(5): 510-517, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32057098
14.
Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Childs Nerv Syst
; 37(7): 2375-2379, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247381
15.
MAPK pathway control of stem cell proliferation and differentiation in the embryonic pituitary provides insights into the pathogenesis of papillary craniopharyngioma.
Development
; 144(12): 2141-2152, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28506993
16.
Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course.
Acta Neuropathol
; 139(1): 193-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31563982
17.
MRI profiling of focal cortical dysplasia using multi-compartment diffusion models.
Epilepsia
; 61(3): 433-444, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065673
18.
A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups.
Pediatr Blood Cancer
; 67(9): e28426, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32614133
19.
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 21(4): 1027, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30228318
20.
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
Acta Neuropathol
; 135(1): 115-129, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058119