Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

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Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions

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im November 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2018

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Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

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Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

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Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

@en

Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

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Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

@en

Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

@nl

P1476

Validation of a Long-Read PCR ...... xanucleotide Repeat Expansions

@en

P2093

EunRan Suh

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Kaitlyn Grando

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P2860

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.

Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

P304

871-882

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scholarly article

P356

10.1016/J.JMOLDX.2018.07.001

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English

P433

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P478

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Vivianna M Van Deerlin

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2018-11-01T00:00:00Z

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P698

30138726

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P921

molecular medicine

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6222278

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