Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

Berry-Kravis, Elizabeth

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

Item Type	Name
Concept	Heterozygote
Concept	Genetic Carrier Screening
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	Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
Academic Article	Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
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	Progression of tremor and ataxia in male carriers of the FMR1 premutation.
Academic Article	Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
Academic Article	Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
Academic Article	Fibroblast phenotype in male carriers of FMR1 premutation alleles.
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	Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Academic Article	Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
Academic Article	White matter disease and cognitive impairment in FMR1 premutation carriers.
Academic Article	Climbing the branches of a family tree: diagnosis of fragile X syndrome.
Academic Article	Newborn, carrier, and early childhood screening recommendations for fragile X.
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	Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Academic Article	Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
Academic Article	Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
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	Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
Academic Article	Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers.
Academic Article	Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
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	Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Academic Article	Physiological regulation and social-emotional processing in female carriers of 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.
Academic Article	Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
Academic Article	Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
Academic Article	Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.

Search Criteria

Heterozygote