Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

scientific article published on 11 August 2006

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. is …
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scholarly articleQ13442814

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P356DOI10.1136/JMG.2006.043950
P932PMC publication ID2598026
P698PubMed publication ID16905681
P5875ResearchGate publication ID6881157

P50authorDanuta Z LoeschQ91179403
Minh BuiQ39063603
P2093author name stringRandi J Hagerman
Robert J Mitchell
Flora Tassone
Richard M Huggins
P2860cites work???Q24621437
Absence of expression of the FMR-1 gene in fragile X syndromeQ41669091
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndromeQ43073775
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).Q45976696
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.Q46666276
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in DrosophilaQ47071910
Frequencies of "grey-zone" and premutation-size FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and CanadaQ47265027
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyondQ48942951
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.Q51923151
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.Q51927334
FMR1 alleles in Tasmania: a screening study of the special educational needs population.Q51934520
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.Q51965229
Clinical involvement and protein expression in individuals with the FMR1 premutation.Q52169510
Estimating regression models with unknown break-pointsQ73940694
The FMR1 and FMR2 mutations are not common etiologies of academic difficulty among school-age childrenQ74051286
Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boysQ77759362
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxQ28235115
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary dataQ30573331
Dendritic spine structural anomalies in fragile-X mental retardation syndromeQ33919487
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.Q34146206
The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporterQ34266389
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.Q34364858
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs populationQ34388858
FRAXA and FRAXE: the results of a five year surveyQ35434914
Phenotypic variation and FMRP levels in fragile X.Q35679929
Elevated FMR1 mRNA in premutation carriers is due to increased transcription.Q35697473
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 geneQ35790051
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size rangeQ37217477
A study of the distributional characteristics of FMR1 transcript levels in 238 individualsQ38345118
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)200-204
P577publication date2006-08-11
P1433published inJournal of Medical GeneticsQ14640281
P1476titleTranscript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
P478volume44