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