Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

scientific article published in October 2009

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.32990
P932PMC publication ID4154630
P698PubMed publication ID19760650
P5875ResearchGate publication ID26818289

P50authorDavid E GodlerQ56996913
Cheryl DissanayakeQ60502268
Danuta Z LoeschQ91179403
P2093author name stringFlora Tassone
Freya Gehling
K H Andy Choo
Howard Slater
Trent Burgess
Richard Huggins
Emma Gould
Mahmoud Khaniani
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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxQ28235115
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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
Lifespan changes in working memory in fragile X premutation malesQ34154343
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
Dnmt1 overexpression causes genomic hypermethylation, loss of imprinting, and embryonic lethalityQ34276391
FRAXA and FRAXE: the results of a five year surveyQ35434914
Phenotypic variation and FMRP levels in fragile X.Q35679929
Signalling shutdown strategies in aging immune cells.Q35842720
An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).Q36645376
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.Q37004710
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50Q37156229
Epigenetics and Neural developmental disorders: Washington DC, September 18 and 19, 2006Q37238104
Expression of the human cytochrome c1 gene is controlled through multiple Sp1-binding sites and an initiator regionQ38352219
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidineQ39681923
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation allelesQ40429123
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutationQ44521568
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriersQ46124789
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.Q46666276
Investigating the relationship between FMR1 allele length and cognitive ability in children: a subtle effect of the normal allele range on the normal ability range?Q50278166
Autism spectrum phenotype in males and females with fragile X full mutation and premutationQ50302602
Clinical features of boys with fragile X premutations and intermediate allelesQ50344713
FMR1 alleles in Tasmania: a screening study of the special educational needs population.Q51934520
The behavior inventory for rating development (BIRD): assessments of reliability and factorial validityQ70579736
A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spotsQ71621149
Nicotine and attention in adult attention deficit hyperactivity disorder (ADHD)Q71797769
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectneurodevelopmental disorderQ3450985
P304page(s)2306-2310
P577publication date2009-10-01
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleLinking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.
P478volume149A

Reverse relations

cites work (P2860)
Q28087781Advanced technologies for the molecular diagnosis of fragile X syndrome
Q46018564Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Q33617809Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
Q39375765Fragile X syndrome: an overview and update of the FMR1 gene.
Q50749236Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
Q36132963Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study
Q33926696Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.
Q35212704Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
Q47874718Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions
Q34544358Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert
Q27011565Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
Q59329392The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers
Q92921445Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation
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