Genetic Association Studies

Molecular clustering of endometrial carcinoma based on estrogen-induced gene expression

Cancer Biology / Humans / Female / Genetic Association Studies / Cluster Analysis / Body Mass Index / ROC Curve / Aged / Middle Aged / Adult / Prognosis / Age Factors / Gene expression profiling / estrone / Randomized Controlled Trials as Topic / Body Mass Index / ROC Curve / Aged / Middle Aged / Adult / Prognosis / Age Factors / Gene expression profiling / estrone / Randomized Controlled Trials as Topic

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

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A visual migraine aura locus maps to 9q21-q22

Cognitive Science / Cartography / Neurology / Finland / Humans / Haplotypes / Genetic Association Studies / Pedigree / Clinical Sciences / Genotype / Sex Factors / Scotoma / Migraine With Aura / Locus / Neurosciences / Neurologic Examination / Haplotypes / Genetic Association Studies / Pedigree / Clinical Sciences / Genotype / Sex Factors / Scotoma / Migraine With Aura / Locus / Neurosciences / Neurologic Examination

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Potential Celiac Patients: A Model of Celiac Disease Pathogenesis

Genetics / Polymorphism / Adolescent / Multidisciplinary / Humans / Child / Intestinal Mucosa / Celiac Disease / Female / Male / Genetic Association Studies / Infant / Risk factors / PLoS one / Human Genome / Risk Factors / Small Intestine / Child / Intestinal Mucosa / Celiac Disease / Female / Male / Genetic Association Studies / Infant / Risk factors / PLoS one / Human Genome / Risk Factors / Small Intestine

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Comparison of Expression Profiles in Ovarian Epithelium In Vivo and Ovarian Cancer Identifies Novel Candidate Genes Involved in Disease Pathogenesis

Immunohistochemistry / Ovarian Cancer / Multidisciplinary / Humans / Mutation / Mice / Female / Animals / Genetic Association Studies / Gene Dosage / PLoS one / Aged / Middle Aged / Epithelium / Adult / Chromosome segregation / Reproducibility of Results / In Silico / Overall Survival / Adenocarcinoma / Gene expression profiling / Cohort Studies / Estrous cycle / Ovarian Surface Epithelium / Mice / Female / Animals / Genetic Association Studies / Gene Dosage / PLoS one / Aged / Middle Aged / Epithelium / Adult / Chromosome segregation / Reproducibility of Results / In Silico / Overall Survival / Adenocarcinoma / Gene expression profiling / Cohort Studies / Estrous cycle / Ovarian Surface Epithelium

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science / Multidisciplinary / Transcriptome / Humans / Mutation / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies / Animals / Genetic Association Studies / Neurons / Gene Regulatory Networks / SYNAPSES / Zebrafish / Axons / Nucleotides / Exome / Cohort Studies

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Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients

Genetics / Portugal / Humans / Child / Female / Inborn errors of metabolism / Male / Genetic Association Studies / Infant / Gene / Phenotype / Middle Aged / Genotype / Amino Acid Sequence / Inborn errors of metabolism / Male / Genetic Association Studies / Infant / Gene / Phenotype / Middle Aged / Genotype / Amino Acid Sequence

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MAN1B1 Deficiency: An Unexpected CDG-II

Genetics / Molecular Biology / Genomics / Adolescent / Intellectual Disability / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome / Humans / Child / Mutation / Female / Male / Genetic Association Studies / Infant / Glycosylation / PLoS Genetics / Amino Acid Sequence / Golgi Apparatus / Exome

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Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Polymorphism / Molecular Genetics / Molecular Epidemiology / Portugal / Humans / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase

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Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Polymorphism / Molecular Genetics / Molecular Epidemiology / Portugal / Humans / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase / Haplotypes / Phenylketonuria / Genetic Association Studies / Phenotype / Clinical Sciences / Spectrum / Genomic DNA / Molecular Characterization / Phenylalanine hydroxylase

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Diseños de investigación en epidemiología genética

Risk / Molecular Epidemiology / Humans / Genetic Association Studies / Family Health / Public health systems and services research / Linkage Disequilibrium / Bias (Epidemiology) / Cross Sectional Studies / Case Control Studies / Cohort Studies / Public health systems and services research / Linkage Disequilibrium / Bias (Epidemiology) / Cross Sectional Studies / Case Control Studies / Cohort Studies

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

Gene expression / Lung Cancer / Humans / Mutation / Female / Male / Genetic Association Studies / Clinical Sciences / Aged / Middle Aged / Adult / ALK / Male / Genetic Association Studies / Clinical Sciences / Aged / Middle Aged / Adult / ALK

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N-Acetyltransferase 2 genetic polymorphisms and risk of colorectal cancer

Diet / Humans / World / Smoking / Female / Meat / Male / Genetic Association Studies / Risk factors / Clinical Sciences / Arylamine N-acetyltransferase / Aged / Middle Aged / Questionnaires / Adult / Acetylation / Risk Factors / Case Control Studies / Meat / Male / Genetic Association Studies / Risk factors / Clinical Sciences / Arylamine N-acetyltransferase / Aged / Middle Aged / Questionnaires / Adult / Acetylation / Risk Factors / Case Control Studies

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Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

Genetics / Aging / Adolescent / Humans / Child / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies

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A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes

Genetics / Dominican Republic / Humans / Female / Male / Genetic Association Studies / Follow-up studies / Waist Circumference / Clinical Sciences / Aged / Middle Aged / Heart Ventricles / Genetic Association Studies / Follow-up studies / Waist Circumference / Clinical Sciences / Aged / Middle Aged / Heart Ventricles

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