Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Richard M. Ferrie"'
Autor:
Alan E. Donnenfeld, Hilary Harris, Stacey C Fitzsimmons, Margaret McGovern, Peter T Rowley, Jeryl L. Erickson, M. Priscilla Short, Lewis B. Holmes, Linda A. Bradley, Randall Keichi Saiki, Michael F. Greene, Barbara A. Bernhardt, Katherine W. Klinger, Nachama L Wilker, Michael Katz, Richard A. Doherty, John Tabone, Reed E. Pyeritz, Paula K. Haddow, Glenn E. Palomaki, Richard M. Ferrie, Michael L. LeFevre, Brian Cheuvront, Stephen Little, George C. Cunningham, David R. Witt, R. Rodney Howell, James E. Haddow, Greg L. Loeben, Henry A. Erlich, Wayne W. Grody, Nicholas Wald, Edward M. Kloza, David J. H. Brock
Publikováno v:
Genetics in Medicine. 1:129-135
Purpose: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. Methods: Participants included experts from various relevant disciplines. Systematic reviews and da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a485e18bb83c651cfbe57459c1447e
https://doi.org/10.1097/00125817-199905000-00003
https://doi.org/10.1097/00125817-199905000-00003
Autor:
Stephen Little, Clive R. Newton, David Mark Whitcombe, Richard M. Ferrie, Jane Theaker, Jannine Brownie, Susan G. Shawcross
Publikováno v:
Nucleic Acids Research. 25:3235-3241
We attempted to produce primer-dimers (PDs) from a variety of primers with differing types and extents of complementarity. Where PDs were produced they were cloned and sequenced. We were unable to produce detectable PDs either with individual primers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91ae00d487bb51cf8ace7ab6c2f1390
https://doi.org/10.1093/nar/25.16.3235
https://doi.org/10.1093/nar/25.16.3235
Autor:
Stephen Little, Richard M. Ferrie, Clive R. Newton, Neil James Gibson, Helen L. Gillard, David Mark Whitcombe
Publikováno v:
Clinical Chemistry. 43:1336-1341
We combined the amplification refractory mutation system (ARMS™) and fluorescence polarization (FP) to give a homogeneous genomic DNA genotype analysis method. Oligonucleotide probes labeled with the fluorescein dyes fluorescein isothiocyanate and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::460ebcdb6c4a3bfea755f1157e110c14
https://doi.org/10.1093/clinchem/43.8.1336
https://doi.org/10.1093/clinchem/43.8.1336
Autor:
D D Johnson, Richard M. Ferrie, N H Robertson, James E. Haddow, Glenn E. Palomaki, Linda A Bradley
Publikováno v:
Journal of Medical Screening. 5:34-36
Objectives This study aims to expand our knowledge of the general population frequency of two mutations, C282Y and H63D, identified in the candidate gene for hereditary haemochromatosis, and to determine whether the testing can be performed using rou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ca986426bd2105c151a85060bee3c74
https://doi.org/10.1136/jms.5.1.34
https://doi.org/10.1136/jms.5.1.34
Autor:
Dorene A. Johnson, Richard M. Ferrie, Carlos A. Chaparro, Linda A. Bradley, Nancy Hastings Robertson
Publikováno v:
Genetic testing. 2(4)
In Maine, prenatal screening for cystic fibrosis (CF) is offered through primary care providers. Cheekbrush (buccal) samples are routinely tested for eight mutations by multiplex PCR amplification of five exons, followed by dot-blot hybridization wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d5426b1126232ca51eff4087bfc8391
https://pubmed.ncbi.nlm.nih.gov/10464613
https://pubmed.ncbi.nlm.nih.gov/10464613
Publikováno v:
Nucleic acids research. 19(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bff059ab9e67b1b9543762033f691e1
https://pubmed.ncbi.nlm.nih.gov/2041791
https://pubmed.ncbi.nlm.nih.gov/2041791
Publikováno v:
Biochemical Society Transactions. 16:623-623
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a97a4a5b896ad68536eda5cfe61ebb9a
https://doi.org/10.1042/bst0160623
https://doi.org/10.1042/bst0160623
Autor:
Bryson Jr., Robert W.1,2 brysonjr@uw.edu, Riddle, Brett R.1, Graham, Matthew R.1, Smith, Brian Tilston3, Prendini, Lorenzo4
Publikováno v:
PLoS ONE. Jan2013, Vol. 8 Issue 1, Special section p1-11. 11p.
Autor:
Tully, Thomas1,2 tully@biologie.ens.fr, Ferrière, Régis1,3
Publikováno v:
PLoS ONE. 2008, Vol. 3 Issue 9, p1-11. 11p. 2 Diagrams, 6 Graphs.
Publikováno v:
Journal of Medical Screening; Jun1999, Vol. 6 Issue 2, p60-66, 7p