Výsledky vyhledávání - "Franklin Quan"

Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

Autor: Rebecca Chen, Victoria M. Pratt, Charles M. Strom, Arlene Buller, Matthew J. McGinniss, Beryl Crossley, Franklin Quan, Weimin Sun

Publikováno v: The Journal of Molecular Diagnostics. 9:95-98

The College of American Pathologists molecular pathology checklist item (MOL.20550) calls for periodic review of molecular genetic statistics, including percentages of normal and abnormal findings and allele frequencies. A web-based query tool applic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e878f0905ad2daf23048e0e8d08ec1
https://doi.org/10.2353/jmoldx.2007.060107

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Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory

Autor: Weimin Sun, Joy B Redman, Mei Peng, Charles M. Strom, Matthew McGinnis, Raymond G. Fenwick, Franklin Quan, Arlene Buller, Beryl Crossley

Publikováno v: Genetics in Medicine. 9:46-51

Purpose: To examine the data from over 119,000 Fragile X Syndrome tests and 307 prenatal tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling. Methods: A proprietary database containing 119,232 c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e99309c16aae38c2943148f64f60ade7
https://doi.org/10.1097/gim.0b013e31802d833c

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Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel

Autor: Charles M. Strom, Richard Janeszco, Franklin Quan, Matthew J. McGinniss, Arlene Buller, Sheng-biao Wang, Weimin Sun

Publikováno v: The Journal of Molecular Diagnostics. 8:371-375

The American College of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology have recommended population-based carrier screening for cystic fibrosis to include 23 mutations and 5 polymorphisms in the cystic fibrosis transmemb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7437f79a3124013b38ff6140a5c8d9e
https://doi.org/10.2353/jmoldx.2006.050115

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Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

Autor: Arlene Buller, Richard A Janeczko, Joy B Redman, Franklin Quan, Wei Min Sun, Ben Anderson, Charles M. Strom, Matthew J. McGinniss

Publikováno v: Genetics in Medicine. 7:633-639

This study determines the analytic accuracy of a Luminex bead-based commercial analyte-specific reagent for the simultaneous analysis of 30 mutations prevalent in Ashkenazi Jews at eight genetic disease loci.DNA from 20 samples with known abnormal ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94224ab8191aabfe3c5aa2d7e7f5cd71
https://doi.org/10.1097/01.gim.0000187120.93597.16

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Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Autor: Neil R. M. Buist, Nancy G. Kennaway, Roberto Anitori, Eric A. Shoubridge, Franklin Quan, Kara Manning, Richard G. Weleber

Publikováno v: Molecular Genetics and Metabolism. 84:176-188

We studied three patients, each harboring a novel mutation at a highly conserved position in a different mitochondrial tRNA gene. The mutation in patient 1 (T5543C) was associated with isolated mitochondrial myopathy, and occurred in the anticodon lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb60461a15639a47d86a2962f32931d
https://doi.org/10.1016/j.ymgme.2004.10.003

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Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory

Autor: Beryl Crossley, Charles M. Strom, Franklin Quan, Matthew J. McGinniss, Weimin Sun, Joy B Redman, Arlene Buller

Publikováno v: Genetics in Medicine. 6:145-152

Purpose: To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts. Methods: A database containing m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ab6432232464f893fadb9b8dcb977f
https://doi.org/10.1097/01.gim.0000127267.57526.d1

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Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

Autor: Nancy G. Kennaway, J. Andrew Keightley, Neil R. M. Buist, Roberto Anitori, Franklin Quan, Miriam D. Burton

Publikováno v: The American Journal of Human Genetics. 67(6):1400-1410

We have reinvestigated a young woman, originally reported by us in 1983, who presented with exercise intolerance and lactic acidosis associated with severe deficiency of complex III and who responded to therapy with menadione and ascorbate. Gradually

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe19c132c99a1c34fa72876266f5adb

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A Drosophila G-protein alpha subunit, Gf alpha, expressed in a spatially and temporally restricted pattern during Drosophila development

Autor: William J. Wolfgang, Franklin Quan, Michael Forte

Publikováno v: Proceedings of the National Academy of Sciences. 90:4236-4240

Heterotrimeric guanine nucleotide binding proteins (G proteins) couple receptors for extracellular signals to intracellular second messenger-generating systems. Previous studies have shown that G-protein alpha subunits (G alpha) are expressed in a sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d509e74cf172c4b300d3eaf7717267
https://doi.org/10.1073/pnas.90.9.4236

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