Cognitive and Visual Processing Skills and Their Relationship to Mutation Size in Full and Premutation Female Fragile X Carriers - Concepedia

Concepedia

Publication | Closed Access

Cognitive and Visual Processing Skills and Their Relationship to Mutation Size in Full and Premutation Female Fragile X Carriers

12

Citations

46

References

2000

Year

Sandra S. Block, Rita Brusca-Vega, William J. Pizzi, Elizabeth Berry‐Kravis, Dominick M. Maino, Theresa M. Treitman

Optometry and Vision Science

Abstract

These findings have implications in educational planning decisions for full mutation carriers who may present with specific cognitive deficits.

References

	Year	Citations
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe, Cell Breakpoint Cluster RegionFragile X SyndromeMendelian DisorderGenetic DisorderGenetics	1991	3.5K
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti, Cell Sherman ParadoxGenome InstabilityGenetic InstabilityGenetic DisorderMedicine	1991	2.1K
Absence of expression of the FMR-1 gene in fragile X syndrome Maura Pieretti, F Zhang, Ying‐Hui Fu, Cell Fragile X SyndromeDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	1991	1.5K
The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation Didier Devys, Yves Lutz, N. Rouyer, Nature Genetics Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderFragile X SpectrumDegenerative Disease	1993	772
Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome Flora Tassone, Randi J. Hagerman, Annette K. Taylor, The American Journal of Human Genetics Fragile-x SyndromeDevelopmental BiologyMendelian DisorderFmr1 MrnaGenetic Disorder	2000	764
Prevalence of fragile X syndrome Gillian Turner, T. Webb, Shannon Wake, American Journal of Medical Genetics	1996	697
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation Ivan Jeanne Weiler, Scott A. Irwin, Anna Y. Klintsova, Proceedings of the National Academy of Sciences Synaptic TransmissionNeurotransmitterMolecular BiologyNeurotransmissionSocial Sciences	1997	639
A marker X chromosome. Herbert A. Lubs PubMed ChromatinChromosome DynamicsMarker X ChromosomeCytogeneticsGenetics	1969	612
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE J Purdon Martin, Julia Bell Journal of Neurology Neurosurgery & Psychiatry PsychiatrySex DifferencesPsychologyParaphiliaSex Difference	1943	475
Clinical involvement and protein expression in individuals with theFMR1 premutation Flora Tassone, Randi J. Hagerman, Annette K. Taylor, American Journal of Medical Genetics	2000	216

Page 1