Item Type | Name |
Concept
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Gene Amplification
|
Concept
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Multigene Family
|
Concept
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Gene Expression
|
Concept
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Amino Acid Sequence
|
Concept
|
Genes, Dominant
|
Concept
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Trinucleotide Repeat Expansion
|
Concept
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Gene Knock-In Techniques
|
Concept
|
Genome, Human
|
Concept
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Transcriptome
|
Concept
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Gene Rearrangement
|
Concept
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Polymorphism, Single Nucleotide
|
Concept
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Gene-Environment Interaction
|
Concept
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Exome
|
Concept
|
Gene Frequency
|
Concept
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Gene Deletion
|
Concept
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Gene Silencing
|
Concept
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Gene Duplication
|
Concept
|
Base Sequence
|
Concept
|
Alleles
|
Concept
|
Genes, Homeobox
|
Concept
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Gene Transfer Techniques
|
Concept
|
Molecular Sequence Data
|
Concept
|
Gene Expression Regulation, Developmental
|
Concept
|
Repetitive Sequences, Nucleic Acid
|
Concept
|
Gene Expression Regulation
|
Concept
|
DNA Repeat Expansion
|
Concept
|
Gene Dosage
|
Academic Article
|
Fragile X gene expansions are not associated with dementia.
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Academic Article
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Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.
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Academic Article
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Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease.
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Academic Article
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Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system.
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Academic Article
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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
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Academic Article
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Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.
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Academic Article
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Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations.
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Academic Article
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Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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Academic Article
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Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.
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Academic Article
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Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
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Academic Article
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Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
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Academic Article
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Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
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Academic Article
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The apolipoprotein E epsilon 2 allele and decline in episodic memory.
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Academic Article
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Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
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Academic Article
|
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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Academic Article
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
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Academic Article
|
Variable human phenotype associated with novel deletions of the PHOX2B gene.
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Academic Article
|
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
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Academic Article
|
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
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Academic Article
|
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
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Academic Article
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
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Academic Article
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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
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Academic Article
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Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
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Academic Article
|
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
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Academic Article
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Genetic variation in the HTR1A gene and sudden infant death syndrome.
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Academic Article
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Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
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Academic Article
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Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
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Academic Article
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Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome.
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Academic Article
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3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
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Academic Article
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
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Academic Article
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A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes.
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Academic Article
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Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells.
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Academic Article
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Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines.
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Academic Article
|
Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
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Academic Article
|
Mutation update for the SATB2 gene.
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Academic Article
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Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
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Academic Article
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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
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Academic Article
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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
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Academic Article
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Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
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Academic Article
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Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
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Academic Article
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Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives.
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