Found: 12
Select item for more details and to access through your institution.
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
- By:
- Publication type:
- Article
Widespread overexpression from the four DNA hypermethylated HOX clusters in aggressive (IDHwt) glioma is associated with H3K27me3 depletion and alternative promoter usage.
- Published in:
- Molecular Oncology, 2021, v. 15, n. 8, p. 1995, doi. 10.1002/1878-0261.12944
- By:
- Publication type:
- Article
The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival.
- Published in:
- Carcinogenesis, 2016, v. 37, n. 2, p. 169, doi. 10.1093/carcin/bgv251
- By:
- Publication type:
- Article
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 146, doi. 10.1002/ana.22295
- By:
- Publication type:
- Article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 1, p. 114, doi. 10.1002/ana.21579
- By:
- Publication type:
- Article
L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2606, doi. 10.1093/hmg/ddac056
- By:
- Publication type:
- Article
Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis.
- Published in:
- Journal of Neuro-Oncology, 2017, v. 135, n. 2, p. 381, doi. 10.1007/s11060-017-2585-7
- By:
- Publication type:
- Article
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 8, p. 1028, doi. 10.1002/humu.20758
- By:
- Publication type:
- Article
DNA methylation patterns in hereditaryhuman cancers mimic sporadic tumorigenesis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 26, p. 3001, doi. 10.1093/hmg/10.26.3001
- By:
- Publication type:
- Article
Fluorescent mRNA labeling through cytoplasmic FISH.
- Published in:
- Nature Protocols, 2013, v. 8, n. 12, p. 2538, doi. 10.1038/nprot.2013.160
- By:
- Publication type:
- Article
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.
- Published in:
- Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1
- By:
- Publication type:
- Article
CLIFinder: identification of LINE-1 chimeric transcripts in RNA-seq data.
- Published in:
- Bioinformatics, 2018, v. 34, n. 4, p. 688, doi. 10.1093/bioinformatics/btx671
- By:
- Publication type:
- Article