| Item Type | Name |
|
Concept
|
Mismatch Repair Endonuclease PMS2
|
|
Concept
|
Amyotrophic Lateral Sclerosis
|
|
Concept
|
Animals
|
|
Concept
|
CCCTC-Binding Factor
|
|
Concept
|
Canada
|
|
Concept
|
Amino Acid Sequence
|
|
Concept
|
African Americans
|
|
Concept
|
Base Sequence
|
|
Concept
|
Binding Sites
|
|
Concept
|
Binding, Competitive
|
|
Concept
|
Biopsy
|
|
Concept
|
Hemophilia B
|
|
Concept
|
Chromosome Banding
|
|
Concept
|
Chromosomes, Human, Pair 17
|
|
Concept
|
Chromosomes, Human, Pair 3
|
|
Concept
|
Chromosomes, Human, Pair 9
|
|
Concept
|
Feasibility Studies
|
|
Concept
|
Dose-Response Relationship, Drug
|
|
Concept
|
Genetic Carrier Screening
|
|
Concept
|
von Hippel-Lindau Disease
|
|
Concept
|
Electrophysiology
|
|
Concept
|
Cricetinae
|
|
Concept
|
Humans
|
|
Concept
|
Genetic Counseling
|
|
Concept
|
Genetic Testing
|
|
Concept
|
Hemophilia A
|
|
Concept
|
Keratins
|
|
Concept
|
Glucocorticoids
|
|
Concept
|
Lymphocyte Activation
|
|
Concept
|
Lymphocytes
|
|
Concept
|
United Kingdom
|
|
Concept
|
Manganese
|
|
Concept
|
Leukocytes, Mononuclear
|
|
Concept
|
Multiple Sclerosis
|
|
Concept
|
Myelin Proteins
|
|
Concept
|
Myelin Sheath
|
|
Concept
|
Introns
|
|
Concept
|
Chromosome Inversion
|
|
Concept
|
Nucleic Acid Conformation
|
|
Concept
|
Nucleosomes
|
|
Concept
|
Nerve Fibers, Myelinated
|
|
Concept
|
Mexico
|
|
Concept
|
Mice, Inbred CBA
|
|
Concept
|
Mice, Inbred C57BL
|
|
Concept
|
Mice, Transgenic
|
|
Concept
|
Poly A
|
|
Concept
|
Models, Genetic
|
|
Concept
|
Molecular Biology
|
|
Concept
|
Mosaicism
|
|
Concept
|
Regulatory Sequences, Nucleic Acid
|
|
Concept
|
Repetitive Sequences, Nucleic Acid
|
|
Concept
|
Sensitivity and Specificity
|
|
Concept
|
Sequence Homology, Nucleic Acid
|
|
Concept
|
RNA, Messenger
|
|
Concept
|
Sex Ratio
|
|
Concept
|
Calcium Channels
|
|
Concept
|
Streptococcus mutans
|
|
Concept
|
Cohort Studies
|
|
Concept
|
Gene Deletion
|
|
Concept
|
Point Mutation
|
|
Concept
|
Sequence Deletion
|
|
Concept
|
In Situ Hybridization, Fluorescence
|
|
Concept
|
Conserved Sequence
|
|
Concept
|
Genomic Imprinting
|
|
Concept
|
Disease Progression
|
|
Concept
|
CpG Islands
|
|
Concept
|
Trinucleotide Repeats
|
|
Concept
|
Myelin P0 Protein
|
|
Concept
|
Microscopy, Atomic Force
|
|
Concept
|
Zinc Fingers
|
|
Concept
|
Antisense Elements (Genetics)
|
|
Concept
|
Oligonucleotides, Antisense
|
|
Concept
|
Smith-Lemli-Opitz Syndrome
|
|
Concept
|
DNA Methylation
|
|
Concept
|
Alu Elements
|
|
Concept
|
5' Untranslated Regions
|
|
Concept
|
Anticipation, Genetic
|
|
Concept
|
Reverse Transcriptase Polymerase Chain Reaction
|
|
Concept
|
Spinocerebellar Ataxias
|
|
Concept
|
Germ-Line Mutation
|
|
Concept
|
AT Rich Sequence
|
|
Concept
|
Trinucleotide Repeat Expansion
|
|
Concept
|
Genomic Instability
|
|
Concept
|
Promoter Regions, Genetic
|
|
Concept
|
Genetic Predisposition to Disease
|
|
Concept
|
Base Pairing
|
|
Concept
|
Mice
|
|
Concept
|
Rats
|
|
Concept
|
MutS Homolog 2 Protein
|
|
Concept
|
MutS DNA Mismatch-Binding Protein
|
|
Concept
|
Proline-Rich Protein Domains
|
|
Concept
|
United States
|
|
Concept
|
Iron-Binding Proteins
|
|
Concept
|
Chi-Square Distribution
|
|
Concept
|
Linear Models
|
|
Concept
|
Case-Control Studies
|
|
Concept
|
TATA-Box Binding Protein
|
|
Concept
|
Polymerase Chain Reaction
|
|
Concept
|
United States Government Agencies
|
|
Concept
|
Databases, Factual
|
|
Concept
|
Embryonic Development
|
|
Concept
|
Sex Distribution
|
|
Concept
|
Adaptor Proteins, Signal Transducing
|
|
Concept
|
DNA Primers
|
|
Concept
|
Microsatellite Instability
|
|
Concept
|
COS Cells
|
|
Concept
|
INDEL Mutation
|
|
Concept
|
Electrophoretic Mobility Shift Assay
|
|
Concept
|
Histone Deacetylase Inhibitors
|
|
Concept
|
Real-Time Polymerase Chain Reaction
|
|
Concept
|
Transcription Elongation, Genetic
|
|
Concept
|
Cerebellar Ataxia
|
|
Concept
|
Charcot-Marie-Tooth Disease
|
|
Concept
|
Disease Models, Animal
|
|
Concept
|
DMF Index
|
|
Concept
|
DNA Transposable Elements
|
|
Concept
|
Follow-Up Studies
|
|
Concept
|
Friedreich Ataxia
|
|
Concept
|
Indians, North American
|
|
Concept
|
Infant, Newborn
|
|
Concept
|
Methods
|
|
Concept
|
Oligodeoxyribonucleotides
|
|
Concept
|
Organizations
|
|
Academic Article
|
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.
|
|
Academic Article
|
Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.
|
|
Academic Article
|
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
|
|
Academic Article
|
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.
|
|
Academic Article
|
Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication.
|
|
Academic Article
|
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
|
|
Academic Article
|
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.
|
|
Academic Article
|
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
|
|
Academic Article
|
Expansion of GAA trinucleotide repeats in mammals.
|
|
Academic Article
|
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.
|
|
Academic Article
|
Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.
|
|
Academic Article
|
Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.
|
|
Academic Article
|
Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence.
|
|
Academic Article
|
Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells.
|
|
Academic Article
|
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
|