subject area of

• A Genetic Screen for Dominant Modifiers of a cyclin E Hypomorphic Mutation Identifies Novel Regulators of S-Phase Entry in Drosophila  Academic Article
• A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting  Academic Article
• A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients  Academic Article
• A Simple, Rapid, and Sensitive Method for the Detection of theJAK2V617F Mutation  Academic Article
• A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel  Academic Article
• A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes  Academic Article
• A multisite blinded study for the detection of BRAF mutations in formalin-fixed, paraffin-embedded malignant melanoma  Academic Article
• A mutant BRAF V600E-specific immunohistochemical assay: correlation with molecular mutation status and clinical outcome in colorectal cancer  Academic Article
• A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro  Academic Article
• AP-1 and ERK1 but not p38 nor JNK is required for CRPV early protein 2-dependent MMP-9 promoter activation in rabbit epithelial cells  Academic Article
• Abnormal Nerve Conduction Features in Fragile X Premutation Carriers  Academic Article
• Altered expression of the FMR1 splicing variants landscape in premutation carriers  Academic Article
• An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene  Academic Article
• Antibody-Based Approach to High-Volume Genotyping for MIC-1 Polymorphism  Academic Article
• Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)  Academic Article
• Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy  Academic Article
• Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients  Academic Article
• Autistic Spectrum Disorder and the Fragile X Premutation  Academic Article
• Bicarbonate-Mediated Stimulation of RegA, the Global Virulence Regulator from Citrobacter rodentium  Academic Article
• Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome  Academic Article
• Characterization of a novel tumorigenic esophageal adenocarcinoma cell line: OANC1  Academic Article
• Clustered somatic mutations are frequent in transcription factor binding motifs within proximal promoter regions in melanoma and other cutaneous malignancies  Academic Article
• Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer  Academic Article
• Consequences of Two Different Amino-Acid Substitutions at the Same Codon in KRT14 Indicate Definitive Roles of Structural Distortion in Epidermolysis Bullosa Simplex Pathogenesis  Academic Article
• DNA Breathing Enables Closed-Tube Mutant Allele Enrichment for Circulating Tumor DNA Analysis  Editorial Article
• Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil-DNA glycosylase  Academic Article
• Enhanced annealing of mismatched oligonucleotides using a novel melting curve assay allows efficient in vitro discrimination and restriction of a single nucleotide polymorphism  Academic Article
• Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females  Academic Article
• Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond  Academic Article
• Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations  Academic Article
• FOXP3 is not mutated in human melanoma  Academic Article
• Flagellin A is essential for the virulence of Vibrio anguillarum.  Academic Article
• Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation  Academic Article
• High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies  Academic Article
• High resolution melting for mutation scanning of TP53exons 5–8  Academic Article
• Impact of KRAS and BRAF gene mutation status on outcomes from the phase III AGITG MAX trial of capecitabine alone or in combination with bevacizumab and mitomycin in advanced colorectal cancer  Conference Paper
• Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome  Academic Article
• Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer  Academic Article
• Inhibin: a candidate gene for premature ovarian failure  Academic Article
• Integrated mutation, copy number and expression profiling in resectable non-small cell lung cancer  Academic Article
• Intravenous administration of Reolysin®, a live replication competent RNA virus is safe in patients with advanced solid tumors  Academic Article
• Isolation of drug-resistant H5N1 virus  Academic Article
• K-rasMutations and Benefit from Cetuximab in Advanced Colorectal Cancer  Academic Article
• Limited copy number - high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies  Academic Article
• Mapping of actionable mutations to histological subtype domains in lung adenocarcinoma: implications for precision medicine  Academic Article
• Methylation of the BRCA1 gene in sporadic breast cancer  Academic Article
• Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome  Academic Article
• MutMap+: Genetic Mapping and Mutant Identification without Crossing in Rice  Academic Article
• Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients  Academic Article
• Mutation detection using mass spectrometric separation of tiny oligonucleotide fragments  Academic Article
• Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure  Academic Article
• Mutational analysis of betaglycan/TGF-βRIII in premature ovarian failure  Academic Article
• Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations  Academic Article
• Neuropsychological Diversity in Apert Syndrome  Academic Article
• Newborn screening and cascade testing forFMR1mutations  Academic Article
• Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X  Academic Article
• Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients  Academic Article
• Novel prion protein insert mutation associated with prolonged neurodegenerative illness  Academic Article
• Overview of molecular testing in non-small-cell lung cancer: mutational analysis, gene copy number, protein expression and other biomarkers of EGFR for the prediction of response to tyrosine kinase inhibitors  Academic Article
• PIK3CA, BRAF, and PTEN status and benefit from cetuximab in the treatment of advanced colorectal cancer-results from NCIC CTG/AGITG CO.17  Academic Article
• PTEN gene expression and mutations in the PIK3CA gene as predictors of clinical benefit to anti-epidermal growth factor receptor antibody therapy in patients with KRAS wild-type metastatic colorectal cancer  Academic Article
• Phenobarbital use and neurological problems in FMR1 premutation carriers  Academic Article
• Plant cell wall polysaccharide biosynthesis: real progress in the identification of participating genes  Academic Article
• Polyclonal Resistance in Gastrointestinal Stromal Tumor Treated with Sequential Kinase Inhibitors  Academic Article
• Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability  Academic Article
• Pseudohypoaldosteronism type 1: the index case revisited  Academic Article
• Quantitative threefold allele-specific PCR (QuanTAS-PCR) for highly sensitive JAK2 V617F mutant allele detection  Academic Article
• Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species  Academic Article
• Rapid detection of FLT3 exon 20 tyrosine kinase domain mutations in patients with acute myeloid leukemia by high-resolution melting analysis  Academic Article
• Rapid detection of carriers with BRCA1 and BRCA2mutations using high resolution melting analysis  Academic Article
• Rare FMR1 gene mutations causing fragile X syndrome: A review  Academic Article
• Role of p53 in the progression of gastric cancer  Academic Article
• Screen for Excess FMR1 Premutation Alleles Among Males With Parkinsonism  Academic Article
• Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population  Academic Article
• Screening for the Presence of FMR1 Premutation Alleles in Women With Parkinsonism  Academic Article
• Sensitive quantification of somatic mutations using molecular inversion probes  Academic Article
• Single-Step Method for the Determination of the Amount of the Common Deletion in Mitochondrial DNA  Academic Article
• Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas  Academic Article
• Specificity and mutational analysis of the metal-dependent 3-deoxy-d-manno-octulosonate 8-phosphate synthase from Acidithiobacillus ferrooxidans  Academic Article
• Structural Insight into BH3 Domain Binding of Vaccinia Virus Antiapoptotic F1L  Academic Article
• TRAIL causes deletions at the HPRT and TK1 loci of clonogenically competent cells  Academic Article
• The clinical relevance of pathologic subtypes in metastatic lung adenocarcinoma  Academic Article
• The cysteine synthase complex from plants  Academic Article
• Tumour procurement, DNA extraction, coverage analysis and optimisation of mutation-detection algorithms for human melanoma genomes  Academic Article
• Two Essential Light Chains Regulate the MyoA Lever Arm To Promote Toxoplasma Gliding Motility  Academic Article
• Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)  Academic Article
• g you The direct determination of haplotypes from extended regions of genomic DNA  Academic Article