Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Kristy L. Richie"'
Autor:
Samantha Maragh, Monique A. Johnson, Elizabeth Berry-Kravis, Kristy L. Richie, Kasinathan Muralidharan, Frederick V. Schaefer, Tina Sellers, Lisa V. Kalman, Karla J. Matteson, Elaine B. Spector, James H. Handsfield, Brett Casey, Jeanne C. Beck, Elizabeth M. Rohlfs, Arlene Buller, Gerald L. Feldman, C. Sue Richards, John P. Jakupciak
Publikováno v:
Genetics in Medicine. 9:719-723
Purpose: Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging, and is complicated by the lack of quality control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a77958b5ffaf2cfb52c34ce0e5fff2d
https://doi.org/10.1097/gim.0b013e318156e8c1
https://doi.org/10.1097/gim.0b013e318156e8c1
Autor:
John P. Jakupciak, Kristy L. Richie
Publikováno v:
Accreditation and Quality Assurance. 12:139-145
The expansion of molecular diagnostics using nucleic acid technologies in clinical and public health practice has increased the need for appropriate reference materials and verified quality-control materials for quality assurance, test validation, pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b333760c1d97fbe11bd93bc6772c9130
https://doi.org/10.1007/s00769-006-0226-5
https://doi.org/10.1007/s00769-006-0226-5
Publikováno v:
Expert Review of Molecular Diagnostics. 6:587-596
Huntington's disease (HD) is a neurodegenerative disease that affects four to seven individuals per 100,000. The onset of symptoms usually begins in middle age, although approximately 5% become symptomatic as juveniles. Death occurs approximately 15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c2258933d2d65fb0d764c2e84d217a
https://doi.org/10.1586/14737159.6.4.587
https://doi.org/10.1586/14737159.6.4.587
Publikováno v:
Clinical Genetics. 61:13-20
To provide the clinical diagnostics community with accurate protocols and measurements for the detection of genetic disorders, we have established a quantitative measurement program for trinucleotide repeats associated with human disease. In this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51f3732feb6928ecb43e8c4c7c9f6ed1
https://doi.org/10.1034/j.1399-0004.2002.610103.x
https://doi.org/10.1034/j.1399-0004.2002.610103.x
Publikováno v:
Fresenius' Journal of Analytical Chemistry. 370:213-219
The Standard Reference Materials Program at the US National Institute of Standards and Technology (NIST) has three human DNA standard reference materials (SRM 2390, SRM 2391a, and SRM 2392) currently available1 (Orders and requests for information co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac68cef26ece1d9229ee77974bc95382
https://doi.org/10.1007/s002160100792
https://doi.org/10.1007/s002160100792
Publikováno v:
Fresenius' Journal of Analytical Chemistry. 352:246-249
Although DNA typing is an accurate, precise, and robust procedure, quality assurance is enhanced by availability of a suitable reference material. The National Institute of Standards and Technology (NIST) recently released a Standard Reference Materi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32243c74b696dd8a7c893df359c86e04
https://doi.org/10.1007/bf00322336
https://doi.org/10.1007/bf00322336
Autor:
Lidia Epp, Lawrence M. Silverman, Victoria M. Pratt, Jean Amos Wilson, C. Sue Richards, Kasinathan Muralidharan, Scott J. Bridgeman, W. Edward Highsmith, Ebony M. Courtney, Amit Phansalkar, Jeanne C. Beck, John P. Jakupciak, Leonard M. Holtegaard, Monique A. Johnson, Paul Labrousse, Nick L. Hjelm, Elaine Lyon, Andrea Ferreira-Gonzalez, Thomas W. Prior, Joanna Wiszniewska, Kristy L. Richie, Elizabeth M. Rohlfs, Karen A. Siegrist, Lisa V. Kalman, Tina Sellers, Benjamin B. Roa, Mohamed Jama, Stephanie L. Sherman
Publikováno v:
The Journal of molecular diagnostics : JMD. 10(1)
Fragile X syndrome, which is caused by expansion of a (CGG)(n) repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental retardation/behavioral problems. Smaller (CGG)(n) repeat expansions in FMR1, premutations, are associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ce9c28264e48ac26ee526c2808ea04
https://pubmed.ncbi.nlm.nih.gov/18165276
https://pubmed.ncbi.nlm.nih.gov/18165276
Autor:
Barbara C. Levin, Susan H. Bernacki, Genevieve Pont-Kingdon, Kasinathan Muralidharan, Kristy L. Richie, Timothy T. Stenzel, Antony E. Shrimpton, Frederick V. Schaefer, Jeanne C. Beck
Publikováno v:
Clinical chemistry. 51(11)
Clinical genetic testing laboratories offer tests for >800 conditions (1) and need both positive and negative genetic control materials for proficiency evaluation, quality control, and test development/validation. Few such materials are available(2)(
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39f15469a02531eb553b9c91e8fe670
https://pubmed.ncbi.nlm.nih.gov/16244288
https://pubmed.ncbi.nlm.nih.gov/16244288
Autor:
Jeanne C. Beck, Daniel H. Farkas, Elizabeth M. Rohlfs, Michael J. Friez, Thomas W. Prior, Kristy L. Richie, Barbara K. Goodman, Barbara C. Levin, Ana K. Stankovic, Charles M. Strom, Victoria M. Pratt, Feras M. Hantash, Karen Snow-Bailey, Jean A. Amos, Kristin G. Monaghan, Elaine B. Spector, Eugene C. Cole, Antony E. Shrimpton, Frederick V. Schaefer, Susan H. Bernacki, Laurina O. Williams, Timothy T. Stenzel, Catherine A. Stolle, Stephen N. Thibodeau, Kasinathan Muralidharan, Karla J. Matteson
Publikováno v:
Clinical chemistry. 51(11)
Background: Positive control materials for clinical diagnostic molecular genetic testing are in critically short supply. High-quality DNA that closely resembles DNA isolated from patient specimens can be obtained from Epstein–Barr virus (EBV)–tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00915e886a39939825dbf8309483a763
https://pubmed.ncbi.nlm.nih.gov/16166172
https://pubmed.ncbi.nlm.nih.gov/16166172
Autor:
Barbara C. Levin, Thomas J. Parsons, Diane K. Hancock, Laura J. Kienker, Michael D. Coble, Diana W. Williams, Mary Pat Jones, Koren A. Holland, Kristy L. Richie
Publikováno v:
Mitochondrion. 2(6)
Forensic and clinical laboratories benefit from DNA standard reference materials (SRMs) that provide the quality control and assurance that their results from sequencing unknown samples are correct. Therefore, the mitochondrial DNA (mtDNA) genome of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634f51570a9c08ace35bfaf753a511bf
https://pubmed.ncbi.nlm.nih.gov/16120335
https://pubmed.ncbi.nlm.nih.gov/16120335