Item Type | Name |
Concept
|
Acute Disease
|
Concept
|
Amygdala
|
Concept
|
Adenosine Triphosphatases
|
Concept
|
Breast Neoplasms
|
Concept
|
Amino Acid Sequence
|
Concept
|
Anxiety
|
Concept
|
Ceruloplasmin
|
Concept
|
Animals
|
Concept
|
Animals, Newborn
|
Concept
|
Chromosome Banding
|
Concept
|
Chromosomes, Human, Pair 2
|
Concept
|
Chromosomes, Human, Pair 6
|
Concept
|
Chromosomes, Human, Pair 8
|
Concept
|
Conditioning, Classical
|
Concept
|
Asthma
|
Concept
|
Base Sequence
|
Concept
|
Celiac Disease
|
Concept
|
Cell Nucleus
|
Concept
|
Association Learning
|
Concept
|
Autistic Disorder
|
Concept
|
Binding Sites
|
Concept
|
Dominance, Cerebral
|
Concept
|
Dihydroxyphenylalanine
|
Concept
|
beta-N-Acetylhexosaminidases
|
Concept
|
Biopsy
|
Concept
|
Biological Evolution
|
Concept
|
Chromosomes, Human, Pair 1
|
Concept
|
Chromosomes, Human, Pair 15
|
Concept
|
Chromosomes, Human, Pair 21
|
Concept
|
Chromosomes, Human, 4-5
|
Concept
|
Color Vision Defects
|
Concept
|
Centromere
|
Concept
|
Charcot-Marie-Tooth Disease
|
Concept
|
Chromosomes, Human, Pair 12
|
Concept
|
Chromosomes, Human, Pair 14
|
Concept
|
Chromosome Deletion
|
Concept
|
Chromosomes, Human, Pair 13
|
Concept
|
Chromosomes, Human, Pair 4
|
Concept
|
Cognition
|
Concept
|
Bronchi
|
Concept
|
Chromosomes, Human, Pair 5
|
Concept
|
Chromosomes, Human, Pair 7
|
Concept
|
Glucosephosphate Dehydrogenase
|
Concept
|
Golgi Apparatus
|
Concept
|
Cricetulus
|
Concept
|
Cosmids
|
Concept
|
Chromosomes, Human, Pair 20
|
Concept
|
Hallucinations
|
Concept
|
Copper
|
Concept
|
Cytosol
|
Concept
|
Huntington Disease
|
Concept
|
Complement C3
|
Concept
|
Consanguinity
|
Concept
|
Disease
|
Concept
|
Cytoplasm
|
Concept
|
Discrimination Learning
|
Concept
|
Epilepsy
|
Concept
|
Child, Preschool
|
Concept
|
DNA, Neoplasm
|
Concept
|
DNA, Recombinant
|
Concept
|
Electrophysiology
|
Concept
|
Epithelial Cells
|
Concept
|
Lipoprotein Lipase
|
Concept
|
Chromosomes, Human, Pair 10
|
Concept
|
Chromosomes, Human, Pair 17
|
Concept
|
Chromosomes, Human, Pair 19
|
Concept
|
Chromosomes, Human, Pair 9
|
Concept
|
Chronic Disease
|
Concept
|
Finland
|
Concept
|
DNA
|
Concept
|
DNA, Satellite
|
Concept
|
Fragile X Syndrome
|
Concept
|
Fibrinogen
|
Concept
|
Memory, Short-Term
|
Concept
|
Infant, Newborn
|
Concept
|
Introns
|
Concept
|
Chromosome Inversion
|
Concept
|
Environment
|
Concept
|
Epilepsies, Partial
|
Concept
|
Microtubule-Associated Proteins
|
Concept
|
Expert Systems
|
Concept
|
Genes, Dominant
|
Concept
|
Glucosephosphate Dehydrogenase Deficiency
|
Concept
|
Neural Conduction
|
Concept
|
Neurologic Examination
|
Concept
|
Karyotyping
|
Concept
|
Genes, Recessive
|
Concept
|
Oncogenes
|
Concept
|
Hippocampus
|
Concept
|
Dystonia
|
Concept
|
Electroencephalography
|
Concept
|
Electromyography
|
Concept
|
Hyperlipidemias
|
Concept
|
Electroretinography
|
Concept
|
Genetic Carrier Screening
|
Concept
|
Escherichia coli
|
Concept
|
Gene Amplification
|
Concept
|
Magnesium
|
Concept
|
Membrane Glycoproteins
|
Concept
|
HLA-DQ Antigens
|
Concept
|
Language Development Disorders
|
Concept
|
Mice, Inbred Strains
|
Concept
|
Models, Molecular
|
Concept
|
Muscular Atrophy, Spinal
|
Concept
|
Mice, Transgenic
|
Concept
|
Models, Genetic
|
Concept
|
Markov Chains
|
Concept
|
Memory
|
Concept
|
Immunohistochemistry
|
Concept
|
Organ Culture Techniques
|
Concept
|
Molecular Sequence Data
|
Concept
|
Monosaccharide Transport Proteins
|
Concept
|
Intellectual Disability
|
Concept
|
Methamphetamine
|
Concept
|
Mice, Inbred C57BL
|
Concept
|
Repetitive Sequences, Nucleic Acid
|
Concept
|
Molecular Biology
|
Concept
|
Cricetinae
|
Concept
|
Neuronal Plasticity
|
Concept
|
Nervous System Physiological Phenomena
|
Concept
|
Synaptic Transmission
|
Concept
|
Neurofibromatosis 1
|
Concept
|
Neuronal Ceroid-Lipofuscinoses
|
Concept
|
Cholesterol, HDL
|
Concept
|
Microscopy, Electron
|
Concept
|
MNSs Blood-Group System
|
Concept
|
Peripheral Nervous System Neoplasms
|
Concept
|
Nuclear Family
|
Concept
|
Fear
|
Concept
|
Fibrosis
|
Concept
|
Poland
|
Concept
|
Switzerland
|
Concept
|
Protein Conformation
|
Concept
|
Psychomotor Performance
|
Concept
|
Risk Factors
|
Concept
|
Sequence Homology, Nucleic Acid
|
Concept
|
Receptors, Immunologic
|
Concept
|
Intermediate Filament Proteins
|
Concept
|
ROC Curve
|
Concept
|
Polymorphism, Restriction Fragment Length
|
Concept
|
Cadherins
|
Concept
|
Serial Learning
|
Concept
|
Keratoderma, Palmoplantar
|
Concept
|
Retinitis Pigmentosa
|
Concept
|
Risk
|
Concept
|
RNA
|
Concept
|
Hepatolenticular Degeneration
|
Concept
|
Humans
|
Concept
|
Reflex, Startle
|
Concept
|
Tremor
|
Concept
|
Synapses
|
Concept
|
Statistics as Topic
|
Concept
|
CHO Cells
|
Concept
|
United States
|
Concept
|
Syndrome
|
Concept
|
Trisomy
|
Concept
|
Tunisia
|
Concept
|
Verbal Learning
|
Concept
|
Visual Acuity
|
Concept
|
Visual Fields
|
Concept
|
Vocabulary
|
Concept
|
Germ-Line Mutation
|
Concept
|
Oligonucleotide Probes
|
Concept
|
Cholesterol, LDL
|
Concept
|
Trinucleotide Repeat Expansion
|
Concept
|
Reverse Transcriptase Polymerase Chain Reaction
|
Concept
|
Multifactorial Inheritance
|
Concept
|
Gene Duplication
|
Concept
|
Spinal Muscular Atrophies of Childhood
|
Concept
|
Principal Component Analysis
|
Concept
|
Bias
|
Concept
|
Genes, Tumor Suppressor
|
Concept
|
Memory Disorders
|
Concept
|
Mice, Inbred DBA
|
Concept
|
Deoxyribonuclease HindIII
|
Concept
|
DNA Probes
|
Concept
|
Spinal Dysraphism
|
Concept
|
Genomic Library
|
Concept
|
Chromosomes, Mammalian
|
Concept
|
Case-Control Studies
|
Concept
|
In Situ Hybridization
|
Concept
|
Methionine
|
Concept
|
Muscular Dystrophies
|
Concept
|
Myosins
|
Concept
|
National Institutes of Health (U.S.)
|
Concept
|
Nystagmus, Pathologic
|
Concept
|
Oligodeoxyribonucleotides
|
Concept
|
Point Mutation
|
Concept
|
Gene Deletion
|
Concept
|
Sequence Deletion
|
Concept
|
Freezing Reaction, Cataleptic
|
Concept
|
Cholangiocarcinoma
|
Concept
|
Mice, Knockout
|
Concept
|
DNA, Complementary
|
Concept
|
Cell Proliferation
|
Concept
|
Serotonin Plasma Membrane Transport Proteins
|
Concept
|
Chemokines
|
Concept
|
Apoptosis Regulatory Proteins
|
Concept
|
Carcinoma, Ductal, Breast
|
Concept
|
Scavenger Receptors, Class B
|
Concept
|
Maze Learning
|
Concept
|
Hair Follicle
|
Concept
|
Mutation, Missense
|
Concept
|
Parkinson Disease
|
Concept
|
Peroneal Nerve
|
Concept
|
In Situ Hybridization, Fluorescence
|
Concept
|
Immobility Response, Tonic
|
Concept
|
Knowledge Bases
|
Concept
|
Area Under Curve
|
Concept
|
Amino Acid Substitution
|
Concept
|
Parents
|
Concept
|
Internet
|
Concept
|
Oligonucleotide Array Sequence Analysis
|
Concept
|
Amino Acid Motifs
|
Concept
|
Databases, Genetic
|
Concept
|
Desmogleins
|
Concept
|
Databases, Protein
|
Concept
|
Promoter Regions, Genetic
|
Concept
|
Mice
|
Concept
|
Surveys and Questionnaires
|
Concept
|
RNA, Messenger
|
Concept
|
Hexosaminidase B
|
Concept
|
Receptor, Serotonin, 5-HT1A
|
Concept
|
SMN Complex Proteins
|
Concept
|
Reduced Folate Carrier Protein
|
Concept
|
Receptors, Scavenger
|
Concept
|
Rats
|
Concept
|
Data Mining
|
Concept
|
Sex Factors
|
Concept
|
Skin Neoplasms
|
Concept
|
Space Perception
|
Concept
|
Blotting, Western
|
Concept
|
Integrative Medicine
|
Concept
|
Survival of Motor Neuron 2 Protein
|
Concept
|
Logistic Models
|
Concept
|
Dystrophin
|
Concept
|
Frameshift Mutation
|
Concept
|
Blotting, Southern
|
Concept
|
Blotting, Northern
|
Concept
|
Reproducibility of Results
|
Concept
|
Long-Term Potentiation
|
Concept
|
Odds Ratio
|
Concept
|
Epidermolysis Bullosa Simplex
|
Concept
|
Polymerase Chain Reaction
|
Concept
|
Zinc Fingers
|
Concept
|
ATP-Binding Cassette Transporters
|
Concept
|
CD36 Antigens
|
Concept
|
Molecular Epidemiology
|
Concept
|
Statistics, Nonparametric
|
Concept
|
Microsatellite Repeats
|
Concept
|
Metallochaperones
|
Concept
|
Cation Transport Proteins
|
Concept
|
Muscular Dystrophy, Emery-Dreifuss
|
Concept
|
Epilepsy, Partial, Sensory
|
Concept
|
Neuronal Apoptosis-Inhibitory Protein
|
Concept
|
HLA-DQ beta-Chains
|
Concept
|
Genome-Wide Association Study
|
Concept
|
Search Engine
|
Concept
|
Siblings
|
Concept
|
Molecular Sequence Annotation
|
Concept
|
Survival of Motor Neuron 1 Protein
|
Concept
|
HLA-DQ alpha-Chains
|
Concept
|
Alzheimer Disease
|
Concept
|
Catechol O-Methyltransferase
|
Concept
|
Chickens
|
Concept
|
Chromosome Aberrations
|
Concept
|
Chromosomes, Human
|
Concept
|
Chromosomes, Human, Pair 16
|
Concept
|
Chromosomes, Human, Pair 18
|
Concept
|
DNA, Single-Stranded
|
Concept
|
Family Health
|
Concept
|
Folic Acid
|
Concept
|
Follow-Up Studies
|
Concept
|
Genetic Testing
|
Concept
|
Menkes Kinky Hair Syndrome
|
Concept
|
Magnetic Resonance Imaging
|
Concept
|
Metabolism, Inborn Errors
|
Concept
|
Mice, Mutant Strains
|
Concept
|
Muscular Dystrophy, Animal
|
Concept
|
Oligonucleotides
|
Concept
|
Retrospective Studies
|
Concept
|
Seizures
|
Concept
|
Databases, Factual
|
Concept
|
Mutagenesis, Insertional
|
Concept
|
Conserved Sequence
|
Concept
|
Receptors, Dopamine D2
|
Concept
|
DNA Primers
|
Concept
|
Chromosome Breakage
|
Concept
|
Quantitative Trait, Heritable
|
Concept
|
Penetrance
|
Concept
|
Genetic Predisposition to Disease
|
Concept
|
Polymorphism, Single Nucleotide
|
Concept
|
Cytogenetic Analysis
|
Concept
|
Collagen Type VII
|
Concept
|
Maltose-Binding Proteins
|
Academic Article
|
High resolution physical map of the region surrounding the spinal muscular atrophy gene.
|
Academic Article
|
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
|
Academic Article
|
High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.
|
Academic Article
|
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
|
Academic Article
|
No evidence for significant linkage between bipolar affective disorder and chromosome 18 pericentromeric markers in a large series of multiplex extended pedigrees.
|
Academic Article
|
Identification and localization of microsatellite markers covering human chromosome 18.
|
Academic Article
|
Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.
|
Academic Article
|
Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12.
|
Academic Article
|
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
|
Academic Article
|
EB simplex superficialis resulting from a mutation in the type VII collagen gene.
|
Academic Article
|
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder.
|
Academic Article
|
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
|
Academic Article
|
Molecular triangulation: bridging linkage and molecular-network information for identifying candidate genes in Alzheimer's disease.
|
Academic Article
|
Evidence for sex-specific risk alleles in autism spectrum disorder.
|
Academic Article
|
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.
|
Academic Article
|
Recurrent 16p11.2 microdeletions in autism.
|
Academic Article
|
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
|
Academic Article
|
Catechol-O-methyltransferase (COMT) genotypes and working memory: associations with differing cognitive operations.
|
Academic Article
|
Strong association of de novo copy number mutations with autism.
|
Academic Article
|
Dinucleotide repeat polymorphism at the D19S206 locus.
|
Academic Article
|
Dinucleotide repeat polymorphism at the D4S251 locus.
|
Academic Article
|
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.
|
Academic Article
|
Molecular and statistical approaches to the detection and correction of errors in genotype databases.
|
Academic Article
|
Bipolar disorder and linkage to Xq28.
|
Academic Article
|
Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.
|
Academic Article
|
Report of the first international workshop on human chromosome 18 mapping.
|
Academic Article
|
Genetic alterations of microsatellites on chromosome 18 in human breast carcinoma.
|
Academic Article
|
A microsatellite genetic linkage map of human chromosome 13.
|
Academic Article
|
Dinucleotide repeat polymorphism at the D1S182 locus.
|
Academic Article
|
A microsatellite genetic linkage map of human chromosome 18.
|
Academic Article
|
A genomewide screen for autism susceptibility loci.
|
Academic Article
|
Large-scale copy number polymorphism in the human genome.
|
Academic Article
|
Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.
|
Academic Article
|
Perils of gene mapping with microsatellite markers.
|
Academic Article
|
Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia.
|
Academic Article
|
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.
|
Academic Article
|
DNA markers for nervous system diseases.
|
Academic Article
|
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
|
Academic Article
|
Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.
|
Academic Article
|
Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
|
Academic Article
|
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.
|
Academic Article
|
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.
|
Academic Article
|
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
|
Academic Article
|
Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.
|
Academic Article
|
Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs.
|
Academic Article
|
Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
|
Academic Article
|
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
|
Academic Article
|
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.
|
Academic Article
|
Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.
|
Academic Article
|
Lynx: a database and knowledge extraction engine for integrative medicine.
|
Academic Article
|
Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.
|
Academic Article
|
Linkage analysis of psychosis in bipolar pedigrees suggests novel putative loci for bipolar disorder and shared susceptibility with schizophrenia.
|
Academic Article
|
Genomewide linkage analysis of celiac disease in Finnish families.
|
Academic Article
|
A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22.
|
Academic Article
|
Mapping complex traits in diseases of the hair and skin.
|
Academic Article
|
Cloning and genomic organization of beclin 1, a candidate tumor suppressor gene on chromosome 17q21.
|
Academic Article
|
Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
|
Academic Article
|
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.
|
Academic Article
|
Isolation of multiple genomic sequences coding for chicken myosin heavy chain protein.
|
Academic Article
|
Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis.
|
Academic Article
|
The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers.
|
Academic Article
|
Mapping of D4S98/S114/S113 confines the Huntington's defect to a reduced physical region at the telomere of chromosome 4.
|
Academic Article
|
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere.
|
Academic Article
|
Molecular genetics of human chromosome 4.
|
Academic Article
|
Molecular genetics of Huntington's disease.
|
Academic Article
|
Lynx web services for annotations and systems analysis of multi-gene disorders.
|
Academic Article
|
A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
|
Academic Article
|
Fine mapping of candidate regions for bipolar disorder provides strong evidence for susceptibility loci on chromosomes 7q.
|
Academic Article
|
Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR).
|
Academic Article
|
Selection for contextual fear conditioning affects anxiety-like behaviors and gene expression.
|
Academic Article
|
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families.
|
Academic Article
|
A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus.
|
Academic Article
|
A genetic linkage map of the chromosome 4 short arm.
|
Academic Article
|
The implications of genetic variation in human pathology.
|
Academic Article
|
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
|
Academic Article
|
Isolation of polymorphic DNA fragments from human chromosome 4.
|
Academic Article
|
A human anonymous low copy number clone, 4c11 (D6S4), localized to 6p12-6p21, detects 2 RFLPs, one of which is moderately polymorphic.
|
Academic Article
|
Pairwise linkage analysis of 11 loci on human chromosome 4.
|
Academic Article
|
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q.
|
Academic Article
|
Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p.
|
Academic Article
|
Results of a genome-wide genetic screen for panic disorder.
|
Academic Article
|
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.
|
Academic Article
|
Autosomal dominant distal spinal muscular atrophy in four generations.
|
Academic Article
|
Is the spinal muscular atrophy gene found?
|
Academic Article
|
A DNA segment encoding two genes very tightly linked to Huntington's disease.
|
Academic Article
|
Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice.
|
Academic Article
|
Genetic analysis of childhood-onset spinal muscular atrophy.
|
Academic Article
|
Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.
|
Academic Article
|
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
|
Academic Article
|
Genetic linkage analysis of neurofibromatosis with DNA markers.
|
Academic Article
|
Physical mapping, linkage analysis of a putative schizophrenia locus on chromosome 5q.
|
Academic Article
|
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
|
Academic Article
|
Molecular genetic strategies to investigate Huntington's disease.
|
Academic Article
|
Lynx: a knowledge base and an analytical workbench for integrative medicine.
|
Academic Article
|
A p53-regulated apoptotic gene signature predicts treatment response and outcome in pediatric acute lymphoblastic leukemia.
|
Academic Article
|
Identification of novel susceptibility genes associated with seven autoimmune disorders using whole genome molecular interaction networks
|
Academic Article
|
Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice
|
Academic Article
|
Genetic mapping of chronic childhood-onset Spinal Muscular Atrophy to Chromosome 5q11.2-13.3
|
Concept
|
Beclin-1
|
Concept
|
Copper-transporting ATPases
|
Concept
|
Peripherins
|