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One or more keywords matched the following items that are connected to Berry-Kravis, Elizabeth
Item TypeName
Concept Gene Amplification
Concept Multigene Family
Concept Gene Expression
Concept Amino Acid Sequence
Concept Genes, Dominant
Concept Trinucleotide Repeat Expansion
Concept Gene Knock-In Techniques
Concept Genome, Human
Concept Transcriptome
Concept Gene Rearrangement
Concept Polymorphism, Single Nucleotide
Concept Gene-Environment Interaction
Concept Exome
Concept Gene Frequency
Concept Gene Deletion
Concept Gene Silencing
Concept Gene Duplication
Concept Base Sequence
Concept Alleles
Concept Genes, Homeobox
Concept 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.
Academic Article Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.
Academic Article Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease.
Academic Article Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system.
Academic Article Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
Academic Article Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.
Academic Article Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations.
Academic Article Progression of tremor and ataxia in male carriers of the FMR1 premutation.
Academic Article Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.
Academic Article Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
Academic Article Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
Academic Article Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
Academic Article The apolipoprotein E epsilon 2 allele and decline in episodic memory.
Academic Article Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
Academic Article MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Academic Article Variable human phenotype associated with novel deletions of the PHOX2B gene.
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.
Academic Article Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
Academic Article Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
Academic Article Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Academic Article Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Academic Article Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
Academic Article Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
Academic Article Genetic variation in the HTR1A gene and sudden infant death syndrome.
Academic Article Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
Academic Article Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
Academic Article Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome.
Academic Article 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
Academic Article Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
Academic Article A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes.
Academic Article Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells.
Academic Article Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines.
Academic Article Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
Academic Article Mutation update for the SATB2 gene.
Academic Article Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
Academic Article Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Academic Article Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Academic Article Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
Academic Article Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Academic Article Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives.
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  • Genes