DNA Mutational Analysis Concept

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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  Journal Articles
• CDKN2AMutations in Multiple Primary Melanomas  Journal Articles
• De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander  Journal Articles
• KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures  Journal Articles
• A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function  Journal Articles
• A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression  Journal Articles
• A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?  Journal Articles
• A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study  Journal Articles
• A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia  Journal Articles
• A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease  Journal Articles
• A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.  Journal Articles
• Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes  Journal Articles
• 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).  Journal Articles
• Adenovirus E1A under the control of heterologous promoters: Wide variation in E1A expression levels has little effect on virus replication  Journal Articles
• 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  Journal Articles
• Air pollution induces heritable DNA mutations  Journal Articles
• Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors  Journal Articles
• An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster  Journal Articles
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Journal Articles
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Journal Articles
• Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations  Journal Articles
• BRCA1, BRCA2 and breast cancer: a concise clinical review.  Journal Articles
• BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays  Journal Articles
• Benralizumab for Prednisone-Dependent Eosinophilic Asthma Associated With Novel STAT3 Loss of Function Mutation  Journal Articles
• CFTR2: How will it help care?  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)  Journal Articles
• Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C  Journal Articles
• Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles  Journal Articles
• Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease  Journal Articles
• Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA  Journal Articles
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Journal Articles
• 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  Journal Articles
• Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency  Journal Articles
• Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (^Aγ81Leu-β86Ala) in a Ugandan Woman  Journal Articles
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Journal Articles
• DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome  Journal Articles
• DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)  Journal Articles
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Journal Articles
• Diagnosis of arylsulfatase A deficiency  Journal Articles
• Diagnostic testing for α‐globin gene disorders in a heterogeneous North American population  Journal Articles
• Domain−Domain Interactions in the Aminoglycoside Antibiotic Resistance Enzyme AAC(6‘)-APH(2‘ ‘)  Journal Articles
• Dysferlin aggregation in limb‐girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis  Journal Articles
• Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human  Journal Articles
• E-cadherin alterations in atypical lobular hyperplasia and lobular carcinoma in situ of the breast  Journal Articles
• Erlotinib in Lung Cancer — Molecular and Clinical Predictors of Outcome  Journal Articles
• 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  Journal Articles
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Journal Articles
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Journal Articles
• Exome sequencing of Saudi Arabian patients with ADPKD  Journal Articles
• Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing  Journal Articles
• Expression of TP53 mutation-associated microRNAs predicts clinical outcome in head and neck squamous cell carcinoma patients  Journal Articles
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Journal Articles
• Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy  Journal Articles
• 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  Journal Articles
• Follicular Variant Papillary Thyroid Carcinoma Arising in Struma Ovarii  Journal Articles
• Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk  Journal Articles
• Frequent association of factor VII defects with other clotting disorders  Journal Articles
• Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia  Journal Articles
• Genetic risk factors associated with lipid‐lowering drug‐induced myopathies  Journal Articles
• Genetically determined low maternal serum dopamine ?-hydroxylase levels and the etiology of autism spectrum disorders  Journal Articles
• Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation  Journal Articles
• Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant  Journal Articles
• Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family  Journal Articles
• HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update  Journal Articles
• Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases  Journal Articles
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Journal Articles
• Herpes simplex virus VP16 forms a complex with the virion host shutoff protein vhs  Journal Articles
• How is Mitochondrial Biogenesis Affected in Mitochondrial Disease?  Journal Articles
• Hyper IgM syndrome associated with defective CD40-mediated B cell activation.  Journal Articles
• Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies  Journal Articles
• IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C)  Journal Articles
• Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]  Journal Articles
• Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]  Journal Articles
• Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]  Journal Articles
• Identification of ataxia‐associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids  Journal Articles
• Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)  Journal Articles
• Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)  Journal Articles
• 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.  Journal Articles
• Immunofluorometric assay of p53 protein versus sequencing of p53 exons 5 to 9 for the detection of p53 abnormalities in ovarian carcinoma.  Journal Articles
• Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene  Journal Articles
• Isolation and characterization of insertion mutants in E1A of adenovirus type 5  Journal Articles
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Journal Articles
• 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  Journal Articles
• LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias  Journal Articles
• Local molecular analysis of indeterminate thyroid nodules  Journal Articles
• MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis  Journal Articles
• Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines  Journal Articles
• Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis  Journal Articles
• Microsatellite DNA Mutations in Double-Crested Cormorants (Phalacrocorax auritus) Associated with Exposure to PAH-Containing Industrial Air Pollution  Journal Articles
• Mild β⁺-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)  Journal Articles
• Molecular genetic analysis of severe protein C deficiency.  Journal Articles
• Multi-Ethnic Genetic Association Study of Carotid Intima-Media Thickness Using a Targeted Cardiovascular SNP Microarray  Journal Articles
• Multilocus DNA fingerprinting reveals high rate of heritable genetic mutation in herring gulls nesting in an industrialized urban site.  Journal Articles
• Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations  Journal Articles
• Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome  Journal Articles
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Journal Articles
• Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey  Journal Articles
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Journal Articles
• New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]  Journal Articles
• 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)  Journal Articles
• Novel 95G>A (R32K) somatic mosaic connexin 32 mutation  Journal Articles
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Journal Articles
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Journal Articles
• PROGRAM DESCRIPTION  Journal Articles
• Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation  Journal Articles
• PedSplit: pedigree management for stratified analysis  Journal Articles
• Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing  Journal Articles
• Peroxisomal D-bifunctional protein deficiency  Journal Articles
• Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers  Journal Articles
• Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis  Journal Articles
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Journal Articles
• Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study  Journal Articles
• Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes  Journal Articles
• Recessive CLCN1 mutation presenting as thomsen disease  Journal Articles
• Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.  Journal Articles
• Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy  Journal Articles
• Risk factors for ovarian cancer and early-onset breast cancer in Mongolia.  Journal Articles
• Role of Cystic Fibrosis Transmembrane Conductance Regulator in Patients With Chronic Sinopulmonary Disease  Journal Articles
• Secondary-Structure Characterization of Two Proficient Kinase Deoxyribozymes  Journal Articles
• Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees  Journal Articles
• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Journal Articles
• Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern  Journal Articles
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Journal Articles
• Somatic mutation landscapes at single-molecule resolution  Journal Articles
• Structural and Kinetic Characterization of the LPS Biosynthetic Enzyme d-α,β-d-Heptose-1,7-bisphosphate Phosphatase (GmhB) from Escherichia coli,  Journal Articles
• Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion  Journal Articles
• TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma  Journal Articles
• Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update  Journal Articles
• Testing genotypes-phenotype relationships using permutation tests on association rules  Journal Articles
• The 5' flanking sequence negatively modulates the in vivo expression and in vitro transcription of a human tRNA gene  Journal Articles
• The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature  Journal Articles
• The Role of Palmitoylation for Protein Recruitment to the Inner Membrane Complex of the Malaria Parasite  Journal Articles
• The complex genetics of amyotrophic lateral sclerosis  Journal Articles
• The hereditary adult-onset ataxias in South Africa  Journal Articles
• The mutational landscape of normal human endometrial epithelium  Journal Articles
• The promoter for the procyclic acidic repetitive protein (PARP) genes of Trypanosoma brucei shares features with RNA polymerase I promoters.  Journal Articles
• The role of TWIST as a regulator in giant cell tumor of bone  Journal Articles
• Three New β-Thalassemia Mutations with Varying Degrees of Severity  Journal Articles
• Threshold survey evaluating transmitted HIV drug resistance among public antenatal clinic clients in Addis Ababa, Ethiopia  Journal Articles
• Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Journal Articles
• Tryptophan hydroxylase polymorphisms in suicide victims  Journal Articles
• Two Conserved Histidine Residues Are Critical to the Function of the TagF-like Family of Enzymes  Journal Articles
• Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity  Journal Articles
• Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Journal Articles
• α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]  Journal Articles
• α⁺-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG)  Journal Articles
• β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation  Journal Articles
• β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis  Journal Articles
• δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis  Journal Articles