Výsledky vyhledávání - "Edward Sekinger"

A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome

Autor: Julie Krosting, Sachin Sah, Flora Tassone, Timothy T. Stenzel, Andrew Hadd, Gary J. Latham, Paul J. Hagerman, Stela Filipovic-Sadic, Liangjing Chen, Wenting Zhang, Edward Sekinger

Publikováno v: Clinical Chemistry. 56:399-408

Background: Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5′ untranslated region of the FMR1 (fragile X mental retardation 1) gene. Molecular diagnoses of FXS and other emerging FMR1 diso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d627825e5ec2ece00607c052b616dba8
https://doi.org/10.1373/clinchem.2009.136101

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An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

Autor: Andrew Hadd, Stela Filipovic-Sadic, Timothy T. Stenzel, Julie Krosting, Paul J. Hagerman, Flora Tassone, Sachin Sah, Liangjing Chen, Gary J. Latham, Ruiqin Pan, Edward Sekinger

Publikováno v: The Journal of molecular diagnostics : JMD. 12(5)

(CGG)(n) repeat expansion in the FMR1 gene is associated with fragile X syndrome and other disorders. Current methods for FMR1 molecular testing rely on Southern blot analysis to detect expanded alleles too large to be PCR-amplified and to identify f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03db1b2efcacf464ebe1314f95e85a98
https://pubmed.ncbi.nlm.nih.gov/20616364

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A High-Density MicroRNA Array for Analyzing the Expression of 15,090 Verified and Predicted Small, Non-Coding RNAs

Autor: Nan Leng, Edward Sekinger, Sachin Sah, Charles D. Johnson, Michael D. Wilson, Frederick A. Fletcher

Publikováno v: Blood. 108:4210-4210

We have designed and evaluated the performance of a custom Affymetrix microRNA (miRNA) microarray that enables the analysis of 15,090 unique mature miRNAs that are predicted or biologically verified. The comprehensive probe content of the array was s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::37cb91d4e8e4fb076d2530d1536b185b
https://doi.org/10.1182/blood.v108.11.4210.4210

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