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In a genetics laboratory, genetic counselors work as part of the larger team of laboratory professionals. This chapter provides details about the many different personnel who work in a genetics laboratory. It discusses their different roles and educa

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https://doi.org/10.1093/med/9780190604929.003.0003

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Akademický článek

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Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Autor: Elinor Langfelder-Schwind, Elaine A Sugarman, Steven Keiles, Christina Zaleski, Joy B Redman, Trisha Brown, Amy Powers, Sumheda Ghate, Michelle N. Strecker, Rebecca J. Darrah, Barbara A. Karczeski

Publikováno v: Journal of Genetic Counseling. 23:5-15

To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3cfc45a63698c170b10b56943e3ff6c
https://doi.org/10.1007/s10897-013-9636-9

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Biological implications of 2-chlorocyclohexa-2,5-diene-1,4-dione toward ribonuclease A

Autor: Caitlin B. Redman, Albert R. Vaughn, Sophia M. Kang, Jisook Kim

Publikováno v: Advances in Bioscience and Biotechnology. :22-28

2-Chlorocyclohexa-2,5-diene-1,4-dione (CBQ) or 2-chloro1,4-benzquinone is one of the common metabolites of polycyclic aromatic hydrocarbons generated through industrial processes. This report describes the biological effects of CBQ toward ribonucleas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dee1ac43c1c367bdc69993337ab2f15c
https://doi.org/10.4236/abb.2013.41004

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Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

Autor: Feras M. Hantash, Joy B Redman, Anja Kammesheidt, Dana Goos, Charles M. Strom, Matthew J. McGinniss, Weimin Sun

Publikováno v: The Journal of Molecular Diagnostics. 9:556-560

Recently, DNA rearrangements in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described with increasing frequency. These large DNA rearrangements are not detected using conventional methods of DNA sequencing, single-st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a41baecf93fed670e09cddc454d03b
https://doi.org/10.2353/jmoldx.2007.060141

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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 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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Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

Autor: Joy B Redman, Maria I. New, Robert C. Wilson, Dianne Keen-Kim, Michele M. Eachus, Raymond G. Fenwick, Reno U. Alanes, Jon M. Nakamoto

Publikováno v: The Journal of Molecular Diagnostics. 7:236-246

Congenital adrenal hyperplasia is an autosomal recessive disorder caused by defective adrenal steroid biosynthesis, resulting in reduced glucocorticoid and increased androgen production. The majority of cases are due to inactivation of the 21-hydroxy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f16bd93fd9c41324f9753417d02182
https://doi.org/10.1016/s1525-1578(10)60550-8

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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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