Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers

Optometry and Vision Science

Volumn 77, Issue 11, 2000, Pages 592-599

  Block, Sandra S ^a   Brusca Vega, Rita ^b   Pizzi, William J ^b   Berry Kravis, Elizabeth ^c   Maino, Dominick M ^a   Treitman, Theresa M ^d  

^a ILLINOIS COLLEGE OF OPTOMETRY   (United States)

^b NORTHEASTERN ILLINOIS UNIVERSITY   (United States)

^c RUSH UNIVERSITY MEDICAL CENTER   (United States)

^d NONE

Author keywords

Fragile X females; Fragile X syndrome; Intelligence; Visual processing

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; REGRESSION ANALYSIS; SCORING SYSTEM; TRINUCLEOTIDE REPEAT; VISION;

FRAGILE XFEMALES; FRAGILE XSYNDROME; VISUAL PROCESSING;

FUNCTIONAL ASSESSMENT; OPHTHALMOLOGY; SENSORY FEEDBACK; SUBJECTIVE TESTING;

VISION;

EID: 0034351444     PISSN: 10405488     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006324-200011000-00009     Document Type: Article

References (55)

1. Physical and behavioral phenotype
2. The fragile X syndrome
3. Prevalence of fragile X syndrome
4. Fragile X syndrome: Molecular and clinical insights and treatment issues
5. A pedigree of mental defect showing sex-linkage
6. A marker X chromosome
7. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
8. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
9. Frequency and stability of the fragile X premutation
10. Familial transmission of the FMR1 CGG repeat
11. Absence of expression of the FMR-1 gene in fragile X syndrome
12. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
13. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
14. Mental impairment in cytogenetically positive fragile X females
15. Cognitive profiles of the carrier fragile X woman
16. Variable expression of the fragile X syndrome in heterozygous females of normal intelligence
17. Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome
18. The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
19. Emotional and neurocognitive deficits in fragile X
20. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
21. Mental status of females with an FMR1 gene full mutation
22. Molecular/clinical correlations in females with fragile X
23. Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
24. Phenotypic involvement in females with the FMR1 gene mutation
25. Molecular-neurobehavioral associations in females with the fragile X full mutation
26. Symptoms of schizotypal personality disorder in fragile X women
27. Developmental Gerstmann syndrome without aphasia in fragile X syndrome
28. Behavioral phenotype
29. A profile of cognitive deficit in females from fragile X families
30. Short-term memory and cognitive variability in adult fragile X females
31. Cognitive profiles associated with the fra(X) syndrome in males and females
32. The fragile X female: A case report of the visual, visual perceptual, and ocular health findings
33. Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome
34. Ocular anomalies in fragile X syndrome
35. Spatial cognition in males with fragile-X syndrome: Evidence for a neuropsychological phenotype
36. Reduced cyclic AMP production in fragile X syndrome: Cytogenetic and molecular correlations
37. Optometric findings in the fragile X syndrome
38. Ocular status of boys with fragile X syndrome: A prospective study
39. Clinical involvement and protein expression in individuals with the FMR1 premutation
40. Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings
41. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome
42. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
43. The inactivation of the fragile X chromosome in female carriers of the Martin Bell syndrome as studied by two different methods
44. Modeling methylation and IQ scores in fragile X females and mosaic males
45. Contribution of the FMR1 gene mutation to human intellectual dysfunction
46. Specific frontal lobe deficits among women with the fragile X gene
47. Optometry and dyslexia
48. Visual perception and reading
49. Vision, learning, and dyslexia. A joint organizational policy statement
50. The underachieving child