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Search Results to Elizabeth Berry-Kravis

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One or more keywords matched the following items that are connected to Berry-Kravis, Elizabeth

Item TypeName
Concept DNA Methylation
Concept Sequence Analysis, DNA
Concept DNA-Binding Proteins
Concept DNA
Concept DNA, Complementary
Concept DNA, Mitochondrial
Concept DNA Primers
Concept DNA Repeat Expansion
Concept DNA Mutational Analysis
Academic Article Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
Academic Article New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Academic Article Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
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 Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
Academic Article Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
Academic Article Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
Academic Article Tremor and ataxia in fragile X premutation carriers: blinded videotape study.
Academic Article A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
Academic Article 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.
Academic Article The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
Academic Article Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
Academic Article Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Academic Article Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Academic Article CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article Newborn, carrier, and early childhood screening recommendations for fragile X.
Academic Article Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Academic Article Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Academic Article Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
Academic Article Variable human phenotype associated with novel deletions of the PHOX2B gene.
Academic Article Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
Academic Article Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Academic Article Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Academic Article Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
Academic Article Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
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 Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Academic Article PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
Academic Article Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
Academic Article 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
Academic Article Methylation analysis of the fragile X syndrome by PCR.
Academic Article Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin.
Academic Article Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines.
Academic Article New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry.
Academic Article Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
Academic Article Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
Academic Article Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

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