Zobrazeno 1 - 10
of 14
pro vyhledávání: '"T R Perry"'
Autor:
T R Perry, Pamela J. Snyder, K J Friedman, W E Highsmith, L M Silverman, Jerry R. Mendell, Thomas W. Prior, Audrey C. Papp
Publikováno v:
Clinical Chemistry. 36:2113-2117
Detection of carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), in the deletion cases, involves calculating gene dosage from Southern blots. We show that the analysis of dosage can also be made from the polymerase chai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6481cb2186132769d7b2456e37fc8662
https://doi.org/10.1093/clinchem/36.12.2113
https://doi.org/10.1093/clinchem/36.12.2113
Autor:
H T Orr, D Schald, K Wagner, T R Perry, M R Knowles, W J Warwick, L M Silverman, R Farber, G L Chong, W E Highsmith
Publikováno v:
Clinical Chemistry. 36:1741-1746
The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd1ffc718695c87ea568a3ac4b650ffb
https://doi.org/10.1093/clinchem/36.10.1741
https://doi.org/10.1093/clinchem/36.10.1741
Publikováno v:
Clinical Chemistry. 36:1756-1759
Gene mutations responsible for the majority of Duchenne/Becker muscular dystrophy (DMD/BMD) and cystic fibrosis (CF) chromosomes have been identified. We describe a DNA-based strategy, rather than the traditional biochemical assays, for screening new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6df9e5bb7937b36eb9dcc103f00a98e0
https://doi.org/10.1093/clinchem/36.10.1756
https://doi.org/10.1093/clinchem/36.10.1756
Publikováno v:
Clinical Chemistry. 36:441-445
By use of cDNA probes, molecular deletions were identified in 66.6% of 42 patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Owing to this high deletion rate, a new strategy for detecting DMD/BMD carriers is feasible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad64ffe2e11c6e94116dc8848bf4d46b
https://doi.org/10.1093/clinchem/36.3.441
https://doi.org/10.1093/clinchem/36.3.441
Autor:
William B. Dobyns, T. R. Perry, Xandra O. Breakefield, Allison Brashear, Laurie J. Ozelius, Ian J. Butler, Martin R. Farlow, Laurence E. Walsh, Patricia L. Kramer, E. J. Kasarskis
Publikováno v:
Neurology. 43(12)
We studied a large family with a previously undescribed, autosomal dominant dystonia-parkinsonism syndrome. We chose to call the disorder "rapid-onset dystonia-parkinsonism" (RDP) based on the unusually rapid evolution of signs and symptoms. Affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cfcb99999ad552be41de4c6a1db37a
https://pubmed.ncbi.nlm.nih.gov/8255463
https://pubmed.ncbi.nlm.nih.gov/8255463
Autor:
T W, Prior, A C, Papp, P J, Snyder, W E, Highsmith, K J, Friedman, T R, Perry, L M, Silverman, J R, Mendell
Publikováno v:
Clinical chemistry. 36(12)
Detection of carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), in the deletion cases, involves calculating gene dosage from Southern blots. We show that the analysis of dosage can also be made from the polymerase chai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8bb94dee2763f3498420f65e36d81b7
https://pubmed.ncbi.nlm.nih.gov/2253356
https://pubmed.ncbi.nlm.nih.gov/2253356
Publikováno v:
Clinical chemistry. 36(10)
Gene mutations responsible for the majority of Duchenne/Becker muscular dystrophy (DMD/BMD) and cystic fibrosis (CF) chromosomes have been identified. We describe a DNA-based strategy, rather than the traditional biochemical assays, for screening new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f4b7669f8e8d8c49f461ba83936b2c39
https://pubmed.ncbi.nlm.nih.gov/2208650
https://pubmed.ncbi.nlm.nih.gov/2208650
Autor:
W E, Highsmith, G L, Chong, H T, Orr, T R, Perry, D, Schald, R, Farber, K, Wagner, M R, Knowles, W J, Warwick, L M, Silverman
Publikováno v:
Clinical chemistry. 36(10)
The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1f8b7d2a46e0e7bc8f2ab0a180832e6e
https://pubmed.ncbi.nlm.nih.gov/2208647
https://pubmed.ncbi.nlm.nih.gov/2208647
Publikováno v:
Clinical chemistry. 36(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d66301190c0c5459481561ac552c8b7
https://pubmed.ncbi.nlm.nih.gov/2208725
https://pubmed.ncbi.nlm.nih.gov/2208725
Publikováno v:
Clinical chemistry. 36(3)
By use of cDNA probes, molecular deletions were identified in 66.6% of 42 patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Owing to this high deletion rate, a new strategy for detecting DMD/BMD carriers is feasible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a1e73d85bb8919873a0c3ded2086af0b
https://pubmed.ncbi.nlm.nih.gov/1968788
https://pubmed.ncbi.nlm.nih.gov/1968788