Search Results - "GRAJKOWSKA, Wieslawa A"
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Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease
Published in Folia neuropathologica (01-01-2017)“…Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine…”
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Prognostic value of medulloblastoma extent of resection after accounting for molecular subgroup: a retrospective integrated clinical and molecular analysis
Published in The lancet oncology (01-04-2016)“…Summary Background Patients with incomplete surgical resection of medulloblastoma are controversially regarded as having a marker of high-risk disease, which…”
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Intertumoral Heterogeneity within Medulloblastoma Subgroups
Published in Cancer cell (12-06-2017)“…While molecular subgrouping has revolutionized medulloblastoma classification, the extent of heterogeneity within subgroups is unknown. Similarity network…”
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Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Published in Nature (London) (01-10-2019)“…© The Author(s), under exclusive licence to Springer Nature Limited 2019 In cancer, recurrent somatic single-nucleotide variants-which are rare in most…”
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Failure of human rhombic lip differentiation underlies medulloblastoma formation
Published in Nature (London) (29-09-2022)“…Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain…”
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Therapeutic Impact of Cytoreductive Surgery and Irradiation of Posterior Fossa Ependymoma in the Molecular Era: A Retrospective Multicohort Analysis
Published in Journal of clinical oncology (20-07-2016)“…Posterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a distinct biology and natural history. The…”
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Subgroup-specific structural variation across 1,000 medulloblastoma genomes
Published in Nature (London) (02-08-2012)“…Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain…”
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Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma
Published in Journal of clinical oncology (10-08-2013)“…Reports detailing the prognostic impact of TP53 mutations in medulloblastoma offer conflicting conclusions. We resolve this issue through the inclusion of…”
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Cytogenetic Prognostication Within Medulloblastoma Subgroups
Published in Journal of clinical oncology (20-03-2014)“…Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on…”
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Subgroup and subtype-specific outcomes in adult medulloblastoma
Published in Acta neuropathologica (01-11-2021)“…Medulloblastoma, a common pediatric malignant central nervous system tumour, represent a small proportion of brain tumours in adults. Previously it has been…”
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The transcriptional landscape of Shh medulloblastoma
Published in Nature communications (19-03-2021)“…© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing,…”
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Tu1529 – A Combined Blood and Mr Imaging Risk Score for Monitoring Liver Inflammation in Paediatric Aih
Published in Gastroenterology (New York, N.Y. 1943) (01-05-2019)Get full text
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TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma
Published in Acta neuropathologica (01-12-2013)“…Telomerase reverse transcriptase ( TERT ) promoter mutations were recently shown to drive telomerase activity in various cancer types, including…”
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Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation
Published in Nature (London) (15-12-2022)Get full text
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Recurrent non-coding U1-snRNA mutations drive cryptic splicing in Shh medulloblastoma
Published in Nature (London) (09-10-2019)“…Recurrent somatic single nucleotide variants (SNVs) in cancer are largely confined to protein-coding genes, and are rare in most paediatric cancers . Here we…”
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Recurrent non-coding U1-snRNA mutations drive cryptic splicing in Shh medulloblastoma
Published in Nature (London) (01-10-2019)“…Recurrent somatic single nucleotide variants (SNVs) in cancer are largely confined to protein coding genes, and are rare in most pediatric cancers 1 – 3 . We…”
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Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma
Published in Cell reports. Medicine (23-06-2020)“…Over the past decade, wingless-activated (WNT) medulloblastoma has been identified as a candidate for therapy de-escalation based on excellent survival;…”
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Prognostic Value of Medulloblastoma Extent of Resection After Accounting for Molecular Subgroup: An Integrated Clinical and Molecular Analysis
Published in The lancet oncology (12-03-2016)Get full text
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WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma
Published in Acta neuropathologica communications (24-12-2014)“…TP53 mutations confer subgroup specific poor survival for children with medulloblastoma. We hypothesized that WNT activation which is associated with improved…”
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