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• A Genetic Screen for Dominant Modifiers of a cyclin E Hypomorphic Mutation Identifies Novel Regulators of S-Phase Entry in Drosophila  Academic Article
• A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients  Academic Article
• A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel  Academic Article
• A multisite blinded study for the detection of BRAF mutations in formalin-fixed, paraffin-embedded malignant melanoma  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
• 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
• 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
• 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
• Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome  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
• 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
• 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
• 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
• 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
• Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species  Academic Article
• Rare FMR1 gene mutations causing fragile X syndrome: A review  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
• 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
• 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