Last Posted: Oct 08, 2020
- Additional genetic alterations in BRAF-mutant gliomas correlate with histologic diagnoses.
Dono Antonio et al. Journal of neuro-oncology 2020 Oct
- ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data.
Kim Nalee, et al. Radiation oncology (London, England) 2020 7 (1) 184
- Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.
Chan Sock Hoai et al. NPJ genomic medicine 2018 330
- IDH1, ATRX, and BRAFV600E mutation in astrocytic tumors and their significance in patient outcome in north Indian population.
Chatterjee Debajyoti, et al. Surgical neurology international 2018 0 29
- Identification of time-to-peak on dynamic 18F-FET-PET as a prognostic marker specifically in IDH1/2 mutant diffuse astrocytoma.
Suchorska Bogdana, et al. Neuro-oncology 2017 8
- Genetic and epigenetic characterization of low-grade gliomas reveals frequent methylation of the MLH3 gene.
Lhotska Halka, et al. Genes, chromosomes & cancer 2015 11 (11) 655-67
- Molecular investigation of isocitrate dehydrogenase gene (IDH) mutations in gliomas: first report of IDH2 mutations in Indian patients.
Das Bibhu Ranjan, et al. Asian Pacific journal of cancer prevention : APJCP 2013 0 (12) 7261-4
- [Relationship between IDH1 mutation and clinic pathologic features in human supratentorial WHO grade II gliomas].
Tang Jun-Jia, et al. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2013 1 (1) 60-3
- IDH1 mutations in diffusely infiltrating astrocytomas: grade specificity, association with protein expression, and clinical relevance.
Thota Balaram, et al. American journal of clinical pathology 2012 8 (2) 177-84
- DMBT1 homozygous deletion in diffuse astrocytomas is associated with unfavorable clinical outcome.
Motomura Kazuya, et al. Journal of neuropathology and experimental neurology 2012 8 (8) 702-7
- Molecular markers in low-grade gliomas: predictive or prognostic?
Hartmann Christian, et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2011 7 (13) 4588-99
- Diffuse astrocytoma
From NCATS Genetic and Rare Diseases Information Center
- Molecular classification of low-grade diffuse gliomas.
Kim Young-Ho, et al. The American journal of pathology 2010 12 (6) 2708-14
- MGMT promoter hypermethylation is a frequent, early, and consistent event in astrocytoma progression, and not correlated with TP53 mutation.
Groenendijk Floris H, et al. Journal of neuro-oncology 2011 2 (3) 405-17
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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