DNA mutational analysis

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / DNA mutational analysis / Child preschool / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / DNA mutational analysis / Child preschool

Analysis of mtDNA sequence variants in colorectal adenomatous polyps

Biopsy / Diagnostic Pathology / Mitochondrial DNA / Humans / Polymerase Chain Reaction / Aged / Middle Aged / Diagnostic / Prognosis / Genetic variation / Disease Progression / Colorectal Neoplasms / DNA mutational analysis / Aged / Middle Aged / Diagnostic / Prognosis / Genetic variation / Disease Progression / Colorectal Neoplasms / DNA mutational analysis

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

Comprehensive Mu-Opioid-Receptor Genotyping by Pyrosequencing

Biochemistry / Clinical Chemistry / Humans / Mutation / Medical Biotechnology / Clinical / Mu Opioid Receptor / Polymerase Chain Reaction / Clinical Sciences / Genotype / DNA mutational analysis / Clinical / Mu Opioid Receptor / Polymerase Chain Reaction / Clinical Sciences / Genotype / DNA mutational analysis

E2f binding-deficient Rb1 protein suppresses prostate tumor progression in vivo

Multidisciplinary / Humans / Mice / Animals / Male / Disease Progression / Tumor Progression / retinoblastoma protein (RB1). / DNA mutational analysis / Disease Progression / Tumor Progression / retinoblastoma protein (RB1). / DNA mutational analysis

E.coli Fis protein activates ribosomal RNA transcription in vitro and in vivo

Biological Sciences / Escherichia coli / Base Sequence / DNA binding proteins / Molecular Sequence Data / DNA mutational analysis

Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes

Adolescent / Spain / Humans / Child / Female / Male / Hemiplegia / Young Adult / Adult / Retrospective Studies / Medicina Clinica / Age of Onset / Ketogenic diet / DNA mutational analysis / Child preschool / Male / Hemiplegia / Young Adult / Adult / Retrospective Studies / Medicina Clinica / Age of Onset / Ketogenic diet / DNA mutational analysis / Child preschool

Combined Pulmonary Hypertension and Renal Thrombotic Microangiopathy in Cobalamin C Deficiency

Pediatrics / Adolescent / Pulmonary Hypertension / Humans / Kidney / Female / Male / Infant / Follow-up studies / Differential Diagnosis / Hemolytic Uremic Syndrome / Disease Progression / Early Diagnosis / vitamin B deficiency / DNA mutational analysis / Child preschool / Female / Male / Infant / Follow-up studies / Differential Diagnosis / Hemolytic Uremic Syndrome / Disease Progression / Early Diagnosis / vitamin B deficiency / DNA mutational analysis / Child preschool

Multiparametric molecular characterization of pulmonary sarcomatoid carcinoma reveals a nonrandom amplification of anaplastic lymphoma kinase (ALK) gene

Gene expression / Lung Cancer / Humans / Fluorescence in situ hybridization / Mutation / Female / Male / Genetic Association Studies / Clinical Sciences / Aged / Middle Aged / Adult / ALK / DNA mutational analysis / Female / Male / Genetic Association Studies / Clinical Sciences / Aged / Middle Aged / Adult / ALK / DNA mutational analysis

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

Electron Microscopy / DNA / Mitochondrial DNA / Humans / Clinical / Male / Infant / Electron Transport / nuclear DNA / Newborn Infant / Cell nucleus / Hybrid Solar Cells / Clinical Investigation / DNA mutational analysis / Complex I / fibroblasts / genetic heterogeneity / Male / Infant / Electron Transport / nuclear DNA / Newborn Infant / Cell nucleus / Hybrid Solar Cells / Clinical Investigation / DNA mutational analysis / Complex I / fibroblasts / genetic heterogeneity

Genetic basis of mitochondrial HMG-CoA synthase deficiency

Genetics / Human Genetics / Complementary and Alternative Medicine / Mitochondria / Gene expression / Humans / Female / Animals / Male / Infant / Base Sequence / Site-directed Mutagenesis / DNA mutational analysis / Humans / Female / Animals / Male / Infant / Base Sequence / Site-directed Mutagenesis / DNA mutational analysis

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Genetics / Cognitive Science / Neurogenetics / Mitochondrial DNA / Humans / Models / Mutation / Female / Animals / Bacteria / Cytochrome c oxidase / Gene / Phenotype / Mitochondrial Genome / Enzyme / Gen / Adult / Enzyme activity / Protein Conformation / Neurosciences / DNA mutational analysis / Models / Mutation / Female / Animals / Bacteria / Cytochrome c oxidase / Gene / Phenotype / Mitochondrial Genome / Enzyme / Gen / Adult / Enzyme activity / Protein Conformation / Neurosciences / DNA mutational analysis

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Epidemiology / Medical Genetics / Molecular Genetics / Biological Sciences / Humans / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity

NFKBIA Deletion in Glioblastomas

Gene expression / Signal Transduction / Humans / Glioblastoma / NF-kappa B / New England / Prognosis / New England Journalof Medicine / DNA mutational analysis / New England / Prognosis / New England Journalof Medicine / DNA mutational analysis

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Cognitive Science / Neurology / Humans / Haplotypes / Female / Male / Clinical Sciences / Aged / Middle Aged / Adult / Internationality / Arginine / Cysteine / Glycine / Amino Acid Substitution Rates / Neurosciences / Parkinson Disease / DNA mutational analysis / Male / Clinical Sciences / Aged / Middle Aged / Adult / Internationality / Arginine / Cysteine / Glycine / Amino Acid Substitution Rates / Neurosciences / Parkinson Disease / DNA mutational analysis

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