Works matching DE "DNA mutational analysis"
Results: 511
Distribution of different classes of CSF3R mutations and co-mutational pattern in 360 myeloid neoplasia.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 263, doi. 10.1007/s00277-025-06232-1
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- Publication type:
- Article
Molecular and clinical characterization of two independent Chinese families with protein C deficiency.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 145, doi. 10.1007/s00277-024-06156-2
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- Publication type:
- Article
Ultrasensitive Detection of Mitochondrial DNA Mutation by Graphene Oxide/DNA Hydrogel Electrode.
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- Advanced Functional Materials, 2014, v. 24, n. 44, p. 6905, doi. 10.1002/adfm.201402191
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- Article
DNA Mutation: Ultrasensitive Detection of Mitochondrial DNA Mutation by Graphene Oxide/DNA Hydrogel Electrode (Adv. Funct. Mater. 44/2014).
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- Advanced Functional Materials, 2014, v. 24, n. 44, p. 6897, doi. 10.1002/adfm.201470285
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- Publication type:
- Article
Mutations in the TP53 gene affected recruitment of 53BP1 protein to DNA lesions, but level of 53BP1 was stable after γ-irradiation that depleted MDC1 protein in specific TP53 mutants.
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- Histochemistry & Cell Biology, 2017, v. 148, n. 3, p. 239, doi. 10.1007/s00418-017-1567-3
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- Article
A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.
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- Cerebrovascular Diseases, 2017, v. 44, n. 3/4, p. 135, doi. 10.1159/000477358
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- Article
Analysis of site-specific N-glycan remodeling in the endoplasmic reticulum and the Golgi.
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- Glycobiology, 2015, v. 25, n. 12, p. 1335, doi. 10.1093/glycob/cwv058
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- Article
Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes.
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- Human Genetics, 2018, v. 137, n. 3, p. 203, doi. 10.1007/s00439-018-1873-4
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- Article
Positions of silent mutations in overlapping genes from different DNA strands.
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- Doklady Mathematics, 2015, v. 92, n. 1, p. 460, doi. 10.1134/S1064562415040195
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- Article
Impact of mitochondrial DNA mutations in multiple myeloma.
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- 2020
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- Publication type:
- Letter
Immunoglobulin gene rearrangement IGHV3-48 is a predictive marker of histological transformation into aggressive lymphoma in follicular lymphomas.
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- Blood Cancer Journal, 2019, v. 9, n. 7, p. N.PAG, doi. 10.1038/s41408-019-0213-9
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- Article
Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report.
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- Journal of the Korean Society of Radiology, 2020, v. 81, n. 6, p. 1478, doi. 10.3348/jksr.2019.0197
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- Article
The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia.
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- Haemophilia, 2017, v. 23, n. 1, p. e8, doi. 10.1111/hae.13107
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- Publication type:
- Article
Standardization of Sequencing Coverage Depth in NGS: Recommendation for Detection of Clonal and Subclonal Mutations in Cancer Diagnostics.
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- Frontiers in Oncology, 2019, p. 1, doi. 10.3389/fonc.2019.00851
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- Publication type:
- Article
Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
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- Kidney & Blood Pressure Research, 2018, v. 43, n. 2, p. 297, doi. 10.1159/000487899
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- Publication type:
- Article
Left Ventricular Noncompaction in a Family with Lamin A/C Gene Mutation.
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- Texas Heart Institute Journal, 2015, v. 42, n. 1, p. 73, doi. 10.14503/THIJ-13-3843
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- Article
Lifestyle - the road to Epigenetics.
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- Biomirror, 2013, v. 4, n. 5, p. 32
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- Article
Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification.
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- Genes, 2015, v. 6, n. 2, p. 150, doi. 10.3390/genes6020150
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- Article
The genetics of uveal melanoma: current insights.
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- Application of Clinical Genetics, 2016, v. 9, p. 147
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- Publication type:
- Article
A stool DNA test (Cologuard) for colorectal cancer screening.
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- 2014
- Publication type:
- journal article
Mutational analysis of Rift Valley fever phlebovirus nucleocapsid protein indicates novel conserved, functional amino acids.
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- PLoS Neglected Tropical Diseases, 2017, v. 11, n. 12, p. 1, doi. 10.1371/journal.pntd.0006155
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- Publication type:
- Article
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
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- 2018
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- Publication type:
- journal article
Sex, butterflies and molecular biology: when pigmentation met mimicry.
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- Pigment Cell & Melanoma Research, 2014, v. 27, n. 4, p. 507, doi. 10.1111/pcmr.12260
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- Publication type:
- Article
Concentration of mitochondrial DNA mutations by cytoplasmic transfer from platelets to cultured mouse cells.
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- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213283
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- Publication type:
- Article
Integrated routine workflow using next-generation sequencing and a fully-automated platform for the detection of KRAS, NRAS and BRAF mutations in formalin-fixed paraffin embedded samples with poor DNA quality in patients with colorectal carcinoma.
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- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0212801
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- Publication type:
- Article
HuVarBase: A human variant database with comprehensive information at gene and protein levels.
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- PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0210475
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- Publication type:
- Article
HUNTER SYNDROME (MUCCOPOLYSACCHARRIDOSIS TYPE II) IN MACEDONIA AND BULGARIA.
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- Contributions of Macedonian Academy of Sciences & Arts, 2011, v. 32, n. 2, p. 187
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- Publication type:
- Article
Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.
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- 2016
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- Publication type:
- journal article
Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome.
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- 2016
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- Publication type:
- journal article
A review of the European LeukemiaNet recommendations for the management of CML.
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- Annals of Hematology, 2015, v. 94, p. 141, doi. 10.1007/s00277-015-2322-2
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- Publication type:
- Article
dSysMap: exploring the edgetic role of disease mutations.
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- Nature Methods, 2015, v. 12, n. 3, p. 167, doi. 10.1038/nmeth.3289
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- Publication type:
- Article
Hepatitis B surface gene variants isolated from blood donors with overt and occult HBV infection in north eastern Egypt.
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- Virology Journal, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12985-015-0389-y
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- Publication type:
- Article
Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers.
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- 2018
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- Publication type:
- journal article
Independent impacts of aging on mitochondrial DNA quantity and quality in humans.
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- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4287-0
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- Publication type:
- Article
Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing.
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- Molecular Cancer, 2018, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12943-018-0875-0
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- Publication type:
- Article
BRCA mutation testing for ovarian cancer in the context of available targeted therapy: Survey and consensus of Hong Kong specialists.
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- Asia Pacific Journal of Clinical Oncology, 2019, v. 15, p. 20, doi. 10.1111/ajco.13116
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- Publication type:
- Article
Investigation of VHL gene associated with miR-223 in clear cell renal cell carcinoma.
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- Molecular Biology Reports, 2022, v. 49, n. 3, p. 2073, doi. 10.1007/s11033-021-07025-1
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- Publication type:
- Article
Characterization and mutation analysis of a halotolerant serine protease from a new isolate of <italic>Bacillus subtilis</italic>.
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- Biotechnology Letters, 2018, v. 40, n. 1, p. 189, doi. 10.1007/s10529-017-2459-2
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- Publication type:
- Article
Mutational analysis of the active site residues of a d-psicose 3-epimerase from Agrobacterium tumefaciens.
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- Biotechnology Letters, 2010, v. 32, n. 2, p. 261, doi. 10.1007/s10529-009-0148-5
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- Article
Inspiring basic and applied research in genome integrity mechanisms: Dedication to Samuel H. Wilson.
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- Environmental & Molecular Mutagenesis, 2024, v. 65, p. 4, doi. 10.1002/em.22595
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- Publication type:
- Article
Mutation analysis with random DNA identifiers ( MARDI) catalogs P ig-a mutations in heterogeneous pools of CD48-deficient T cells derived from DMBA-treated rats.
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- Environmental & Molecular Mutagenesis, 2016, v. 57, n. 2, p. 114, doi. 10.1002/em.21992
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- Publication type:
- Article
Opportunities to integrate new approaches in genetic toxicology: An ILSI-HESI workshop report.
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- Environmental & Molecular Mutagenesis, 2015, v. 56, n. 3, p. 277, doi. 10.1002/em.21923
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- Publication type:
- Article
Oceanisphaera aquimarina sp. nov., Isolated from Oil-Contaminated Sediment of Ocean Coastal Area from South Korea.
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- Current Microbiology, 2016, v. 73, n. 5, p. 618, doi. 10.1007/s00284-016-1103-z
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- Publication type:
- Article
Characterization of Ciprofloxacin-Resistant and Ciprofloxacin-Susceptible Uropathogenic Escherichia coli Obtained from Patients with Gynecological Cancer.
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- Current Microbiology, 2016, v. 73, n. 5, p. 624, doi. 10.1007/s00284-016-1104-y
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- Publication type:
- Article
Can we better predict the biologic behavior of incidental IPMN? A comprehensive analysis of molecular diagnostics and biomarkers in intraductal papillary mucinous neoplasms of the pancreas.
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- Langenbeck's Archives of Surgery, 2018, v. 403, n. 2, p. 151, doi. 10.1007/s00423-017-1644-z
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- Publication type:
- Article
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
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- Human Genetics, 2016, v. 135, n. 12, p. 1343, doi. 10.1007/s00439-016-1721-3
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- Publication type:
- Article
Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.
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- Human Genetics, 2015, v. 134, n. 2, p. 147, doi. 10.1007/s00439-014-1503-8
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- Publication type:
- Article
MRI Features Associated with TERT Promoter Mutation Status in Glioblastoma.
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- 2019
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- Publication type:
- journal article
How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia.
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- Gineco.eu, 2016, v. 12, n. 2, p. 56, doi. 10.18643/gieu.2016.56
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- Publication type:
- Article
The prevalence of CCR5-Δ32 mutation in a cohort of Saudi stem cell donors.
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- HLA: Immune Response Genetics, 2017, v. 90, n. 5, p. 292, doi. 10.1111/tan.13100
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- Article