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Berry-Kravis, Elizabeth

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

Item Type	Name
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.
Academic Article	Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
Academic Article	Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.
Academic Article	Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia 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.
Academic Article	Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP.
Academic Article	FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.

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Trinucleotide Repeats