Item Type | Name |
Concept
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DNA Methylation
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Concept
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Sequence Analysis, DNA
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Concept
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DNA-Binding Proteins
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Concept
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DNA
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Concept
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DNA, Complementary
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Concept
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DNA, Mitochondrial
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Concept
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DNA Primers
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Concept
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DNA Repeat Expansion
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Concept
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DNA Mutational Analysis
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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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Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
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Academic Article
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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
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Academic Article
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
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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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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
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Academic Article
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Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
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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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Tremor and ataxia in fragile X premutation carriers: blinded videotape study.
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Academic Article
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A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
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Academic Article
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Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.
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Academic Article
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The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
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Academic Article
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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
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Academic Article
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
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Academic Article
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Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
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Academic Article
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CDKL5 and ARX mutations in males with early-onset epilepsy.
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Academic Article
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Newborn, carrier, and early childhood screening recommendations for fragile X.
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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
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
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Academic Article
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Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
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Academic Article
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Variable human phenotype associated with novel deletions of the PHOX2B gene.
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Academic Article
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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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Mutations in prickle orthologs cause seizures in flies, mice, and humans.
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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
|
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
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Academic Article
|
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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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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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
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Academic Article
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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
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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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3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
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Academic Article
|
Methylation analysis of the fragile X syndrome by PCR.
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Academic Article
|
Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin.
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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
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New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry.
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Academic Article
|
Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
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Academic Article
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Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
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Academic Article
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Academic Article
|
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
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Academic Article
|
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
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