Phenotype

Mutaciones de AIP en adenomas hipofisarios familiares y esporádicos: experiencia local y revisión de la literatura

Humans / Mutation / Female / Young Adult / Pedigree / Phenotype / Middle Aged / Pituitary Adenoma / Adenoma / Phenotype / Middle Aged / Pituitary Adenoma / Adenoma

Genetic and environmental influences on obsessive-compulsive disorder

Genetics / Cognitive Science / Humans / Obsessive Compulsive Disorder / Risk factors / Phenotype / Clinical Sciences / Sex Factors / Clinical Psychiatry / Study design / Risk Factors / Environment / Neurosciences / Phenotype / Clinical Sciences / Sex Factors / Clinical Psychiatry / Study design / Risk Factors / Environment / Neurosciences

HUMAN BREAST MICROVASCULAR ENDOTHELIAL CELLS RETAIN PHENOTYPIC TRAITS IN LONG-TERM FINITE LIFE SPAN CULTURE

Genetics / Zoology / Cell separation / Adipose tissue / Humans / Endothelial Cells / von Willebrand factor / Female / Karyotyping / Breast / Phenotype / Isolation / Endothelial cell / Time Factors / Large Scale / Chromosomal Instability / Tumor Necrosis Factor–α (TNF) / Life Span / Low Density Lipoprotein (LDL) / Endothelial Cells / von Willebrand factor / Female / Karyotyping / Breast / Phenotype / Isolation / Endothelial cell / Time Factors / Large Scale / Chromosomal Instability / Tumor Necrosis Factor–α (TNF) / Life Span / Low Density Lipoprotein (LDL)

The endoplasmic reticulum localized PIN8 is a pollen-specific auxin carrier involved in intracellular auxin homeostasis

Plant Biology / Pollen / Endoplasmic Reticulum / Arabidopsis / Phenotype / Membrane transport proteins / Homeostasis / Seedling / Membrane transport proteins / Homeostasis / Seedling

Radiological features in Brachmann-de Lange syndrome

Genetics / Humans / Child / Microcephaly / Female / Male / American / Phenotype / Clinical Sciences / Ribs / Extremities / Male / American / Phenotype / Clinical Sciences / Ribs / Extremities

Tolerancia y heterorresistencia en microorganismos grampositivos

Genetics / Biofilms / Persistence / Humans / Phenotype / Gram Positive Bacteria / Daptomycin / Anti-Bacterial Agents / Enterococcus faecalis / Microbial Sensitivity Tests / Medicina Clinica / Methicillin Resistant Staphylococcus Aureus / Gram Positive Bacteria / Daptomycin / Anti-Bacterial Agents / Enterococcus faecalis / Microbial Sensitivity Tests / Medicina Clinica / Methicillin Resistant Staphylococcus Aureus

Hiperparatiroidismo primario normocalcémico: recomendaciones acerca del manejo y seguimiento

Vitamin D / Calcium / Osteoporosis / Humans / Kidney / Female / Male / Follow-up studies / Bone Density / Differential Diagnosis / Parathyroid Hormone / Phenotype / Aged / Disease Progression / Disease Management / Creatinine / Female / Male / Follow-up studies / Bone Density / Differential Diagnosis / Parathyroid Hormone / Phenotype / Aged / Disease Progression / Disease Management / Creatinine

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Mitochondria / Humans / Fatty acids / Mutation / Male / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis

Large intra- and inter-individual variability of genes expression levels limits potential predictive value of molecular diagnosis of dysplasia in Barrett’s esophagus

Molecular Biology / Molecular Medicine / Medicine / Gene expression / Levels of selection / Humans / Genetic Testing / Variability / Female / Male / Statistical Significance / Comparative Analysis / Risk factors / Phenotype / Genotype / Esophagus / Molecular Marker / Prognosis / Reproducibility of Results / Genetic variation / Disease Progression / Risk Factors / Boundary Value Problems / Molecular Diagnostic Techniques / Molecular Diagnosis / Genetic Markers / Predictive value of tests / Gene expression profiling / Esophagoscopy / Down-Regulation / Humans / Genetic Testing / Variability / Female / Male / Statistical Significance / Comparative Analysis / Risk factors / Phenotype / Genotype / Esophagus / Molecular Marker / Prognosis / Reproducibility of Results / Genetic variation / Disease Progression / Risk Factors / Boundary Value Problems / Molecular Diagnostic Techniques / Molecular Diagnosis / Genetic Markers / Predictive value of tests / Gene expression profiling / Esophagoscopy / Down-Regulation

Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes

Small angle X-ray and neutron scattering / Multidisciplinary / Macromolecular X-Ray Crystallography / Amyotrophic Lateral Sclerosis / Humans / Mutation / Copper / Superoxide Dismutase / Phenotype / Solutions / Acids / Edetic Acid / Mutation / Copper / Superoxide Dismutase / Phenotype / Solutions / Acids / Edetic Acid

Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes

Small angle X-ray and neutron scattering / Multidisciplinary / Macromolecular X-Ray Crystallography / Amyotrophic Lateral Sclerosis / Humans / Mutation / Copper / Superoxide Dismutase / Phenotype / Solutions / Acids / Edetic Acid / Mutation / Copper / Superoxide Dismutase / Phenotype / Solutions / Acids / Edetic Acid

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

Calcium / Immunohistochemistry / Cell Biology / Macrophages / Transcription Factors / Apoptosis / Cell Division / Signal Transduction / Biological Sciences / Mice / Animals / Phenotype / Eye / The cell / Osteoblasts / Bone and Bones / Apoptosis / Cell Division / Signal Transduction / Biological Sciences / Mice / Animals / Phenotype / Eye / The cell / Osteoblasts / Bone and Bones

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A Case Report

Adolescent / Case Report / Humans / Child / Sequence alignment / Kidney / Female / Infant / Sex Determination / Phenotype / Human reproduction / Adult / Amino Acid Sequence / Ovary / Amino Acid Substitution Rates / Sexual Differentiation / Uterus / Syndrome / Kidney / Female / Infant / Sex Determination / Phenotype / Human reproduction / Adult / Amino Acid Sequence / Ovary / Amino Acid Substitution Rates / Sexual Differentiation / Uterus / Syndrome

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

Genetics / Magnetic Resonance Imaging / Turkey / Membrane Proteins / Intellectual Disability / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome

The Covariance between Genetic and Environmental Influences across Ecological Gradients

Genetics / Ecology / Multidisciplinary / Animals / Biological evolution / Phenotype / Genetic variation / Phenotype / Genetic variation

[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients]

Cognitive Science / Humans / Child / Female / Male / Phenotype / Clinical Sciences / Adult / Phenotype / Clinical Sciences / Adult

Copyright © 2017 DATOSPDF Inc.