Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.

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Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

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Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.

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2015年の論文

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2015年学术文章

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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Cascade Screening for Fragile ...... pecial Education in Sri Lanka.

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C H W M R Bhagya Chandrasekara

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Hemamali N Perera

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Indhu-Shree Rajan-Babu

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Samuel S Chong

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W S Sulochana Wijesundera

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P2860

Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of

A simple salting out procedure for extracting DNA from human nucleated cells

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening

Screening for CGG repeat expansion in the FMR1 gene by melting curve analysis of combined 5' and 3' direct triplet-primed PCRs.

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

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

A cytogenetic study in 120 Turkish children with intellectual disability and characteristics of fragile X syndrome.

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e0145537

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scholarly article

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10.1371/JOURNAL.PONE.0145537

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English

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2015-12-22T00:00:00Z

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287959770

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26694146

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special education

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4687912

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Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.

about

P2860

P2860

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.

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