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Search Results to Elizabeth Berry-Kravis

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Concept Trinucleotide Repeat Expansion
Concept Trinucleotide Repeats
Academic Article Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Academic Article Fragile X gene expansions are not associated with dementia.
Academic Article Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
Academic Article FMR1 gray-zone alleles: association with Parkinson's disease in women?
Academic Article Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Academic Article FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
Academic Article Neuropathic features in fragile X premutation carriers.
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 syndrome and fragile X-associated tremor ataxia syndrome.
Academic Article Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Academic Article The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
Academic Article Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Academic Article Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Academic Article Newborn, carrier, and early childhood screening recommendations for fragile X.
Academic Article Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Academic Article CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).
Academic Article Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
Academic Article Methylation analysis of the fragile X syndrome by PCR.
Academic Article Neurological and endocrine phenotypes of fragile X carrier women.
Academic Article A review of fragile X premutation disorders: expanding the psychiatric perspective.
Academic Article Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
Academic Article Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.

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  • Trinucleotide Repeats