Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Karen Snow-Bailey"'
Autor:
W. Edward Highsmith, Karen Snow-Bailey, Syed A. Ahmed, Raymond G. Fenwick, Rong Mao, Weimin Sun
Publikováno v:
The Journal of Molecular Diagnostics. 7:283-288
We report nine novel DNA alterations in the RET proto-oncogene in 12 unrelated cases identified by DNA sequencing of exons 10 and 11 of the gene. The novel variants K666E, IVS9-11G--A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7684ce333d8a485c4e35a4c4db17d27b
https://doi.org/10.1016/s1525-1578(10)60556-9
https://doi.org/10.1016/s1525-1578(10)60556-9
Autor:
Karla J. Matteson, Susan H. Bernacki, Eugene C. Cole, Laurina O. Williams, Linda Wasserman, Jeanne C. Beck, Ana K. Stankovic, Karen Snow-Bailey, Thomas W. Prior, Timothy T. Stenzel, James E. Herndon
Publikováno v:
The Journal of Molecular Diagnostics. 5:227-230
Positive control materials for clinical molecular genetic testing applications are currently in critically short supply or non-existent for many genetically based diseases of public health importance. Here we demonstrate that anonymous, residual, cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70040fb92779bb76cb97ac05ad3ffc85
https://doi.org/10.1016/s1525-1578(10)60478-3
https://doi.org/10.1016/s1525-1578(10)60478-3
Autor:
Karen Snow-Bailey
Publikováno v:
Molecular Pathology in Clinical Practice: Oncology ISBN: 9780387873640
Molecular Pathology in Clinical Practice: Infectious Diseases ISBN: 9780387873671
Molecular Pathology in Clinical Practice: Genetics ISBN: 9780387873732
Molecular Pathology in Clinical Practice ISBN: 9780387332260
Molecular Pathology in Clinical Practice: Infectious Diseases ISBN: 9780387873671
Molecular Pathology in Clinical Practice: Genetics ISBN: 9780387873732
Molecular Pathology in Clinical Practice ISBN: 9780387332260
Molecular pathology cannot be discussed without including the translational nature of the clinical practice. While the number of Food and Drug Administration (FDA)-cleared or FDA-approved molecular pathology in vitro diagnostic test kits and analyte-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ccfe424e39cc6020fb9503dd6894941
https://doi.org/10.1007/978-0-387-87366-4_25
https://doi.org/10.1007/978-0-387-87366-4_25
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:
Timothy T. Stenzel, Karla J. Matteson, Daniel H. Farkas, Karen Snow Bailey, Kristin G. Monaghan, Jeanne C. Beck, Susan H. Bernacki, Frederick V. Schaefer, Antony E. Shrimpton, Vivian Chan, Yenbou Liu, Victoria M. Pratt, Michael J. Friez, Wenmei Shi
Publikováno v:
Archives of pathologylaboratory medicine. 127(12)
Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ce804ce57c79aa67308ae92c093abfd
https://pubmed.ncbi.nlm.nih.gov/14632577
https://pubmed.ncbi.nlm.nih.gov/14632577
Autor:
Kent E. Kruckeberg, Dietrich Matern, Karen Snow Bailey, Piero Rinaldo, Angela L. Tauscher, Narasimhan Nagan
Publikováno v:
Molecular genetics and metabolism. 78(4)
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a clinically heterogeneous disorder. The clinical phenotype varies from fatal metabolic decompensation in early life to subtle adult onset, some patients remain asymptomatic. Two mutations (511C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2755ee8f8eceb28ee56a014b7039527
https://pubmed.ncbi.nlm.nih.gov/12706374
https://pubmed.ncbi.nlm.nih.gov/12706374