Genetic Testing | DATOSPDF

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data

Download

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data

Download

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data

Download

Sudden death associated to vascular Ehlers–Danlos syndrome. A case report

Genetics / Forensic Pathology / Genetic counseling / Sudden Death / Case Report / Humans / Genetic Testing / Female / Clinical Sciences / Legal Medicine / Middle Aged / Peripheral Vascular Disease / Ehlers-Danlos Syndrome / Clinical Diagnosis / Humans / Genetic Testing / Female / Clinical Sciences / Legal Medicine / Middle Aged / Peripheral Vascular Disease / Ehlers-Danlos Syndrome / Clinical Diagnosis

Download

Heterologous Expression of Trypanosoma cruzi trans-Sialidase in Leishmania major Enhances Virulence

Immune response / Gene expression / Biological Sciences / Infection and immunity / Virulence / Genetic Testing / Mice / Female / Animals / Infection / Glycoproteins / Chagas disease / Enzyme / Neuraminidase / Immune system / Trypanosoma Cruzi / Virulence factor / Cutaneous Leishmaniasis / Sialic Acid / Heterologous Expression / Leishmania Major / Trans-Sialidase / Genetic Testing / Mice / Female / Animals / Infection / Glycoproteins / Chagas disease / Enzyme / Neuraminidase / Immune system / Trypanosoma Cruzi / Virulence factor / Cutaneous Leishmaniasis / Sialic Acid / Heterologous Expression / Leishmania Major / Trans-Sialidase

Download

Classical genetics goes high-tech

Genetics / Technology / Caenorhabditis elegans / Biological Sciences / Automation / Genetic Testing / Mutation / Animals / Genetic Testing / Mutation / Animals

Download

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

Polymorphism / Computational Biology / Population Genetics / Systems Biology / Calcium / System Biology / Gene expression / Low Frequency / Biological Sciences / Molecular / Association study / Cercopithecus aethiops / Cell line / Humans / Genetic Testing / Microarray / Mice / Animals / Human Molecular Genetics / Gene Network / Genome / Genes / Integrated Approach / Human Genome / Myocardium / Correlation Analysis / Linkage Disequilibrium / Base Sequence / In Silico / Subcellular Fractions / Calcium Binding Protein / Protein Transport / Allele Frequency / Microarray Data / DNA mutational analysis / System Biology / Gene expression / Low Frequency / Biological Sciences / Molecular / Association study / Cercopithecus aethiops / Cell line / Humans / Genetic Testing / Microarray / Mice / Animals / Human Molecular Genetics / Gene Network / Genome / Genes / Integrated Approach / Human Genome / Myocardium / Correlation Analysis / Linkage Disequilibrium / Base Sequence / In Silico / Subcellular Fractions / Calcium Binding Protein / Protein Transport / Allele Frequency / Microarray Data / DNA mutational analysis

Download

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction

Genetics / Pregnancy / Humans / qPCR / Genetic Testing / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction

Download

Loss of Prion Protein in a Transgenic Model of Amyotrophic Lateral Sclerosis

Cognitive Science / Protein Folding / Skeletal muscle biology / Motor neuron / Transgenic Mice / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Prion Protein / DNA mutational analysis / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Prion Protein / DNA mutational analysis

Download

Bayesian model to detect phenotype-specific genes for copy number data

Algorithms / Biological Sciences / Humans / Computer Simulation / Genetic Testing / Mathematical Sciences / Female / Male / BMC Bioinformatics / Gene Dosage / Phenotype / Genotype / Bayes Theorem / Mathematical Sciences / Female / Male / BMC Bioinformatics / Gene Dosage / Phenotype / Genotype / Bayes Theorem

Download

FUNDAMENTOS CLÍNICOS DEL CONSEJO GENÉTICO EN CÁNCER HEREDITARIO

Genetics / Informed Consent / Genetic counseling / Clinical Practice / Genetic Testing / Cancer Risk / Psicooncología / Cancer Risk / Psicooncología

Download

Multiple Endocrine Neoplasia Type1: An Unusual Presentation

Genetics / Molecular Biology / Surgical Oncology / Gene expression / Macromolecular X-Ray Crystallography / Biological Sciences / Humans / Mutagenesis / Genetic Testing / Mutation / Mice / Female / Animals / Male / Gene / Pedigree / Risk factors / Phenotype / Insulinoma / Clinical Sciences / Molecular cloning / Gen / Genotype / Adult / Pituitary Adenoma / Disease Progression / Risk Factors / Hyperparathyroidism / Primary hyperparathyroidism / Amino Acid Substitution Rates / X ray Computed Tomography / Adenoma / Endocrinologist / Hypercalcemia / Pituitary Neoplasms / Biological Sciences / Humans / Mutagenesis / Genetic Testing / Mutation / Mice / Female / Animals / Male / Gene / Pedigree / Risk factors / Phenotype / Insulinoma / Clinical Sciences / Molecular cloning / Gen / Genotype / Adult / Pituitary Adenoma / Disease Progression / Risk Factors / Hyperparathyroidism / Primary hyperparathyroidism / Amino Acid Substitution Rates / X ray Computed Tomography / Adenoma / Endocrinologist / Hypercalcemia / Pituitary Neoplasms

Download

Estudio genético en el síndrome de QT largo en nuestro medio

Genetics / Adolescent / Tribology / Sudden Death / Humans / Child / Genetic Testing / Mutation / Female / Male / Young Adult / Infant / Long QT syndrome / Middle Aged / Genotype / High Sensitivity / Ventricular Fibrillation / Child / Genetic Testing / Mutation / Female / Male / Young Adult / Infant / Long QT syndrome / Middle Aged / Genotype / High Sensitivity / Ventricular Fibrillation

Download

Familial hypercholesterolaemia: a model of care for Australasia

Atherosclerosis / Adolescent / Humans / Child / Genetic Testing / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors / Female / New Zealand / Standardisation / Expert Opinion / Australasia / Cost effectiveness / Risk factors / Spectrum / Adult / Coronary heart disease / Risk Factors

Download

Australian empirical study into genetic discrimination

Genetics / Ethics / Research Design / Prejudice / Australia / Civil Rights / Health insurance / Health Services Research / Employment / Medicine / Humans / Genetic Testing / Life Insurance / Empirical Study / Clinical Sciences / Genetic discrimination / Consumer Participation / Public Policy / Genetic privacy / Civil Rights / Health insurance / Health Services Research / Employment / Medicine / Humans / Genetic Testing / Life Insurance / Empirical Study / Clinical Sciences / Genetic discrimination / Consumer Participation / Public Policy / Genetic privacy

Download

Síndrome de Rendu-Osler-Weber o Telangiectasia Hemorrágica Hereditaria (HHT): Descripción de dos casos y revisión de la literatura

Dentistry / Family history / Genetic Testing / Oral Cavity / Clinical Signs / Clinical Diagnosis

Download