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Acta Neuropathologica, ISSN 0001-6322, 2019, pp. 1 - 13
DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically... 
Brain tumor | Pituitary blastoma | Ciliary body medulloepithelioma | CNS sarcoma | ETMR | Pineoblastoma | DICER1 | DICER1-associated CNS sarcoma | Cerebellum | Phenotypes | Sarcoma | Lung cancer | Pineal gland | MiRNA | Rhabdomyosarcoma | Central nervous system | Nervous system | Ribonuclease | Thyroid carcinoma | Metastases | Missense mutation | Goiter | Pituitary | Cerebrum | Evolution | Children | Mutation | Neoplasia | Thyroid
Journal Article
Journal Article
Histopathology, ISSN 0309-0167, 09/2018, Volume 73, Issue 3, pp. 483 - 491
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 01/2019, Volume 137, Issue 1, pp. 91 - 95
IMPORTANCE Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to... 
OPHTHALMOLOGY | CLASSIFICATION | PROPRANOLOL | PORT-WINE STAINS | OCULAR MANIFESTATIONS | STURGE-WEBER SYNDROME | Glaucoma | Glucose transporter | Deformities | Blood vessels | Data processing | Paraffin | Proteins | Enucleation | Polymerase chain reaction | Hemangioma | Mutation | Children | Ophthalmology | Retinoblastoma | Propranolol | Tumors
Journal Article
Diagnostic Histopathology, ISSN 1756-2317, 2016, Volume 22, Issue 11, pp. 431 - 438
Abstract Tumours of the central nervous system are the second most common type of malignancy in the paediatric population, after haematopoietic malignancies.... 
Pathology | H3 K27 | BRAF V600E | SHH | diffuse midline glioma | medulloblastoma | WNT | atypical teratoid/rhabdoid tumour | INI1 | Antimitotic agents | Pediatrics | College teachers | Antineoplastic agents | Gliomas
Journal Article
Diagnostic Histopathology, ISSN 1756-2317, 2016, Volume 22, Issue 11, pp. 439 - 446
Abstract The practice of neuropathology underwent major changes due to the discovery of molecular alterations with diagnostic, prognostic, and therapeutic... 
Pathology | paediatric brain tumours | BRAF V600E | CDKN2A | MYB | IDH | RELA | H3 K27M | integrative diagnosis | Pediatrics | Medical colleges | Gliomas
Journal Article
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, ISSN 0893-3952, 01/2020, Volume 33, Issue 1, pp. 47 - 56
Ependymomas show poor correlation between World Health Organization grade and clinical outcome. A subgroup of supratentorial ependymomas are characterized by... 
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 04/2019, Volume 78, Issue 4, pp. 305 - 314
Abstract BCOR is an epigenetic regulator and is genetically altered by mutation, deletion, or gene fusion in a range of cancers. “Central nervous system... 
BCOR rearranged glioma | Methylations studies | Neuroepithelial tumor | BCL-6 corepressor protein | Glioma | BCOR-EP300 gene fusion | LANDSCAPE | TUMOR | CLASSIFICATION | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | HIGH-GRADE | SARCOMA | BCOR | MUTATIONS
Journal Article
Neuropathology, ISSN 0919-6544, 12/2018, Volume 38, Issue 6, pp. 624 - 630
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2018, Volume 77, Issue 12, pp. 1079 - 1084
Abstract Familial hemophagocytic lymphohistiocytosis (HLH) is an immune hyperactivation syndrome caused by mutations in genes associated with cytotoxic T-cell... 
Diagnostic brain biopsy | Familial hemophagocytic lymphohistiocytosis | Inflammatory brain lesion | Perforin | UNC13D | Nonneoplastic | INVOLVEMENT | PRF1 | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | FREQUENCY | SPECTRUM | ONSET | Brief Reports
Journal Article
Journal Article
Journal of Neuro-Oncology, ISSN 0167-594X, 11/2019, Volume 145, Issue 2, pp. 349 - 355
Pediatric brain tumors are associated with high morbidity and mortality, in part due to insufficient understanding of tumor biology. With limited tissue... 
Neurology | Medicine & Public Health | Autopsy consent | Oncology | Brain tumor autopsy | Autopsy-derived cell lines | Tissue allocation | ONCOLOGY | BIOPSY | CLINICAL NEUROLOGY | CHILDREN | Pediatrics | Brain research | Autopsy | Brain tumors | Brain cancer | Cell lines | Ribonucleic acid--RNA | Morbidity | DNA sequencing | Tumors
Journal Article