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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 30, 2024
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Records 1 - 8 (of 8 Records)
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Multi-institutional study of the frequency, genomic landscape and outcome of IDH-mutant glioma in paediatrics.
Yeo Kee Kiat et al. Neuro-oncology 2022
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Detection of TERT Promoter Mutations as a Prognostic Biomarker in Gliomas: Methodology, Prospects, and Advances.
Hasanau Tsimur et al. Biomedicines 2022 10(3)
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Utility of methylthioadenosine phosphorylase immunohistochemical deficiency as a surrogate for CDKN2A homozygous deletion in the assessment of adult-type infiltrating astrocytoma.
Satomi Kaishi et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 Oct
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Additional genetic alterations in BRAF-mutant gliomas correlate with histologic diagnoses.
Dono Antonio et al. Journal of neuro-oncology 2020 Oct
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Machine Learning for Better Prognostic Stratification and Driver Gene Identification Using Somatic Copy Number Variations in Anaplastic Oligodendroglioma.
Rosenberg Shai et al. The oncologist 2018 23(12) 1500-1510
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Diffuse gliomas in patients aged 55 years or over: A suggestion for IDH mutation testing.
Barresi Valeria et al. Neuropathology : official journal of the Japanese Society of Neuropathology 2019 Nov
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Clinical utility and treatment outcome of comprehensive genomic profiling in high grade glioma patients.
Blumenthal Deborah T et al. Journal of neuro-oncology 2016 Aug
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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
Bellido Fernando et al. Genet. Med. 2015 Jul 2.
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 30, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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