scholarly article | Q13442814 |
P50 | author | David E Godler | Q56996913 |
Cheryl Dissanayake | Q60502268 | ||
Danuta Z Loesch | Q91179403 | ||
P2093 | author name string | Flora 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 paradox | Q28235115 | ||
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Lifespan changes in working memory in fragile X premutation males | Q34154343 | ||
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 reporter | Q34266389 | ||
Dnmt1 overexpression causes genomic hypermethylation, loss of imprinting, and embryonic lethality | Q34276391 | ||
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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 50 | Q37156229 | ||
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Expression of the human cytochrome c1 gene is controlled through multiple Sp1-binding sites and an initiator region | Q38352219 | ||
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine | Q39681923 | ||
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles | Q40429123 | ||
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation | Q44521568 | ||
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers | Q46124789 | ||
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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 premutation | Q50302602 | ||
Clinical features of boys with fragile X premutations and intermediate alleles | Q50344713 | ||
FMR1 alleles in Tasmania: a screening study of the special educational needs population. | Q51934520 | ||
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A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots | Q71621149 | ||
Nicotine and attention in adult attention deficit hyperactivity disorder (ADHD) | Q71797769 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | neurodevelopmental disorder | Q3450985 |
P304 | page(s) | 2306-2310 | |
P577 | publication date | 2009-10-01 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. | |
P478 | volume | 149A |
Q28087781 | Advanced technologies for the molecular diagnosis of fragile X syndrome |
Q46018564 | Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. |
Q33617809 | Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism |
Q39375765 | Fragile X syndrome: an overview and update of the FMR1 gene. |
Q50749236 | Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. |
Q36132963 | Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study |
Q33926696 | Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. |
Q35212704 | Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes. |
Q47874718 | Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions |
Q34544358 | Relationships 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 |
Q27011565 | Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders |
Q59329392 | The 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 |
Q92921445 | Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation |
Q26996649 | Unstable mutations in the FMR1 gene and the phenotypes |
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