DNA Mutational Analysis Concept

subject area of

• 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis  Academic Article
• CDKN2AMutations in Multiple Primary Melanomas  Academic Article
• De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander  Academic Article
• KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures  Academic Article
• ?-thalassemia in association with a new ?-chain hemoglobin variant [?116(g18)Arg?Leu]: Implications for carrier screening and prenatal diagnosis  Academic Article
• A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function  Academic Article
• A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression  Academic Article
• A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?  Academic Article
• A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study  Academic Article
• A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia  Academic Article
• A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease  Academic Article
• A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family  Academic Article
• A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.  Academic Article
• Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes  Academic Article
• Absence of germline and somatic p53 alterations in children with sporadic brain tumors.  Academic Article
• Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families  Academic Article
• Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis  Academic Article
• Action at a distance in Mu DNA transposition: an enhancer-like element is the site of action of supercoiling relief activity by integration host factor (IHF).  Academic Article
• Adenovirus E1A under the control of heterologous promoters: Wide variation in E1A expression levels has little effect on virus replication  Academic Article
• Affected members of melanoma‐prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF  Academic Article
• Air pollution induces heritable DNA mutations  Academic Article
• Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors  Academic Article
• An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster  Academic Article
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Academic Article
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Academic Article
• Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations  Academic Article
• BRCA1, BRCA2 and breast cancer: a concise clinical review.  Academic Article
• BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays  Academic Article
• Benralizumab for Prednisone-Dependent Eosinophilic Asthma Associated With Novel STAT3 Loss of Function Mutation  Academic Article
• C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository  Academic Article
• CFTR2: How will it help care?  Academic Article
• Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans  Academic Article
• Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)  Academic Article
• Characterization of DCTN1 genetic variability in neurodegeneration  Academic Article
• Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles  Academic Article
• Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease  Academic Article
• Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA  Academic Article
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Academic Article
• Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome  Academic Article
• Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency  Academic Article
• Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (^Aγ81Leu-β86Ala) in a Ugandan Woman  Academic Article
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Academic Article
• DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome  Academic Article
• DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)  Academic Article
• Deep sequencing reveals 50 novel genes for recessive cognitive disorders  Academic Article
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Academic Article
• Diagnosis of arylsulfatase A deficiency  Academic Article
• Diagnostic testing for α‐globin gene disorders in a heterogeneous North American population  Academic Article
• Domain−Domain Interactions in the Aminoglycoside Antibiotic Resistance Enzyme AAC(6‘)-APH(2‘ ‘)  Academic Article
• Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis  Academic Article
• Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human  Academic Article
• E-cadherin alterations in atypical lobular hyperplasia and lobular carcinoma in situ of the breast  Academic Article
• Erlotinib in Lung Cancer — Molecular and Clinical Predictors of Outcome  Academic Article
• Evaluation of Genes Encoding for the Transient Outward Current (Ito) Identifies the KCND2 Gene as a Cause of J-Wave Syndrome Associated With Sudden Cardiac Death  Academic Article
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Academic Article
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Academic Article
• Exome sequencing of Saudi Arabian patients with ADPKD  Academic Article
• Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing  Academic Article
• Expression of TP53 mutation-associated microRNAs predicts clinical outcome in head and neck squamous cell carcinoma patients  Academic Article
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Academic Article
• Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy  Academic Article
• Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression  Academic Article
• Follicular Variant Papillary Thyroid Carcinoma Arising in Struma Ovarii  Academic Article
• Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk  Academic Article
• Frequent association of factor VII defects with other clotting disorders  Academic Article
• Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia  Academic Article
• Genetic risk factors associated with lipid-lowering drug-induced myopathies  Academic Article
• Genetically determined low maternal serum dopamine ?-hydroxylase levels and the etiology of autism spectrum disorders  Academic Article
• Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation  Academic Article
• Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant  Academic Article
• Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family  Academic Article
• HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update  Academic Article
• Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases  Academic Article
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Academic Article
• Herpes simplex virus VP16 forms a complex with the virion host shutoff protein vhs  Academic Article
• How is Mitochondrial Biogenesis Affected in Mitochondrial Disease?  Academic Article
• Hyper IgM syndrome associated with defective CD40-mediated B cell activation.  Academic Article
• Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies  Academic Article
• IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)  Academic Article
• Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]  Academic Article
• Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]  Academic Article
• Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]  Academic Article
• Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids  Academic Article
• Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)  Academic Article
• Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)  Academic Article
• Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.  Academic Article
• Immunofluorometric assay of p53 protein versus sequencing of p53 exons 5 to 9 for the detection of p53 abnormalities in ovarian carcinoma.  Academic Article
• Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of theARSA gene  Academic Article
• Isolation and characterization of insertion mutants in E1A of adenovirus type 5  Academic Article
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Academic Article
• Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family  Academic Article
• LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias  Academic Article
• Local molecular analysis of indeterminate thyroid nodules  Academic Article
• MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis  Academic Article
• Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines  Academic Article
• Membrane anchoring domain of herpes simplex virus glycoprotein gB is sufficient for nuclear envelope localization  Academic Article
• Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis  Academic Article
• Microsatellite DNA Mutations in Double-Crested Cormorants (Phalacrocorax auritus) Associated with Exposure to PAH-Containing Industrial Air Pollution  Academic Article
• Mild β⁺-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)  Academic Article
• Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency  Academic Article
• Molecular genetic analysis of severe protein C deficiency.  Academic Article
• Multi-Ethnic Genetic Association Study of Carotid Intima-Media Thickness Using a Targeted Cardiovascular SNP Microarray  Academic Article
• Multilocus DNA fingerprinting reveals high rate of heritable genetic mutation in herring gulls nesting in an industrialized urban site.  Academic Article
• Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations  Academic Article
• Mutation analysis of theFRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome  Academic Article
• Mutational analysis of the vesicular stomatitis virus glycoprotein G for membrane fusion domains  Academic Article
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Academic Article
• Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey  Academic Article
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Academic Article
• New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]  Academic Article
• Normal Hb A₂β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A_2’δ-Globin Gene Missense Mutation (HBD: c.49G>C)  Academic Article
• Novel 95G>A (R32K) somatic mosaic connexin 32 mutation  Academic Article
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Academic Article
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Academic Article
• PROGRAM DESCRIPTION  Academic Article
• Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deepNF1intronic mutation  Academic Article
• PedSplit: pedigree management for stratified analysis  Academic Article
• Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing  Academic Article
• Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing  Academic Article
• Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers  Academic Article
• Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) byDHCR7 mutation analysis  Academic Article
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Academic Article
• Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study  Academic Article
• Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations  Academic Article
• Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes  Academic Article
• Recessive CLCN1 mutation presenting as thomsen disease  Academic Article
• Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.  Academic Article
• Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy  Academic Article
• Risk factors for ovarian cancer and early-onset breast cancer in Mongolia.  Academic Article
• Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease  Academic Article
• ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions  Academic Article
• Secondary-Structure Characterization of Two Proficient Kinase Deoxyribozymes  Academic Article
• Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees  Academic Article
• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Academic Article
• Shortened cytoplasmic domain affects intracellular transport but not nuclear localization of a viral glycoprotein.  Academic Article
• Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern  Academic Article
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Academic Article
• Structural and Kinetic Characterization of the LPS Biosynthetic Enzyme d-α,β-d-Heptose-1,7-bisphosphate Phosphatase (GmhB) from Escherichia coli,  Academic Article
• Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion  Academic Article
• TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma  Academic Article
• Testing genotypes-phenotype relationships using permutation tests on association rules  Academic Article
• The 5' flanking sequence negatively modulates the in vivo expression and in vitro transcription of a human tRNA gene  Academic Article
• The Combination of p53 Mutation and neu/erbB-2 Amplification Is Associated With Poor Survival in Node-Negative Breast Cancer  Academic Article
• The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype  Academic Article
• The Roberts syndrome/SC phocomelia spectrum-A case report of an adult with review of the literature  Academic Article
• The Role of Palmitoylation for Protein Recruitment to the Inner Membrane Complex of the Malaria Parasite  Academic Article
• The complex genetics of amyotrophic lateral sclerosis  Academic Article
• The hereditary adult-onset ataxias in South Africa  Academic Article
• The promoter for the procyclic acidic repetitive protein (PARP) genes of Trypanosoma brucei shares features with RNA polymerase I promoters.  Academic Article
• The role of TWIST as a regulator in giant cell tumor of bone  Academic Article
• Three New β-Thalassemia Mutations with Varying Degrees of Severity  Academic Article
• Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome  Academic Article
• Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Academic Article
• Tryptophan hydroxylase polymorphisms in suicide victims  Academic Article
• Two Conserved Histidine Residues Are Critical to the Function of the TagF-like Family of Enzymes  Academic Article
• Variants of theorexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity  Academic Article
• Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Academic Article
• α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]  Academic Article
• α⁺-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG)  Academic Article
• β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation  Academic Article
• δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis  Academic Article