Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

Autor: Kenneth H. Fischbeck, C. Bertelson, Louis M. Kunkel, Allen D. Roses, Margaret A. Pericak-Vance, Richard J. Bartlett, Anthony P. Monaco, William Middlesworth, J Aldridge, Chris Anne Colletti

The Duchenne muscular dystrophy (DMD) locus has been localized to the short arm of the human X chromosome (Xp21) by detection of structural abnormalities and by genetic linkage studies. A library highly enriched for human DNA from Xp21 was constructe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f27d3a59146c9b71ab1c8cc48cfd2c
https://ora.ox.ac.uk/objects/uuid:bda1d37a-ef79-41d0-a27c-df22631130ce

Reminiscences About Organic Photochromics

Autor: Robert C. Bertelson

Publikováno v: Molecular Crystals and Liquid Crystals Science and Technology. Section A. Molecular Crystals and Liquid Crystals. 246:1-8

The history of organic photochromies for potential military and commercial applications, especially the efforts at NCR Corp. during 1955–1972, is recalled. Impractical then because of “fatigue,” or...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9782bf462de41e07e37e38850a7dd038
https://doi.org/10.1080/10587259408037778

Spiropyrans

Autor: Robert C. Bertelson

Publikováno v: Organic Photochromic and Thermochromic Compounds ISBN: 0306458829

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8b9b4e14c228b4ef2057a75d532a239b
https://doi.org/10.1007/0-306-46911-1_2

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

Autor: L M, Kunkel, J F, Hejtmancik, C T, Caskey, A, Speer, A P, Monaco, W, Middlesworth, C A, Colletti, C, Bertelson, U, Müller, M, Bresnan, F, Shapiro, U, Tantravahi, J, Speer, S A, Latt, R, Bartlett, M A, Pericak-Vance, A D, Roses, M W, Thompson, P N, Ray, R G, Worton, K H, Fischbeck, P, Gallano, M, Coulon, C, Duros, J, Boue, C, Junien, J, Chelly, G, Hamard, M, Jeanpierre, M, Lambert, J C, Kaplan, A, Emery, H, Dorkins, S, McGlade, K E, Davies, C, Boehm, B, Arveiler, C, Lemaire, G J, Morgan, M J, Denton, J, Amos, M, Bobrow, F, Benham, E, Boswinkel, C, Cole, V, Dubowitz, K, Hart, S, Hodgson, L, Johnson, A, Walker, L, Roncuzzi, A, Ferlini, C, Nobile, G, Romeo, D E, Wilcox, N A, Affara, M A, Ferguson-Smith, M, Lindolf, H, Kaariainen, A, de la Chapelle, V, Ionasescu, C, Searby, R, Ionasescu, E, Bakker, G J, van Ommen, P L, Pearson, C R, Greenberg, J L, Hamerton, K, Wrogemann, R A, Doherty, R, Polakowska, C, Hyser, S, Quirk, N, Thomas, J F, Harper, B T, Darras, U, Francke

Publikováno v: Nature. 322:73-77

Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac42acd99365ac65d56ea50d27b3a3c5
https://doi.org/10.1038/322073a0

4-phenyl-4H-pyrazolo[3,4-c] furazans. The reactions of 3,4-dacylfuroxans with phenylhydrazine and with aniline

Autor: David B. McQuain, Kenneth D. Glanz, Robert C. Bertelson

Publikováno v: Journal of Heterocyclic Chemistry. 6:317-324

Three different 3,4-diaeylfuroxans (1) are shown to give 3-substituted-l-phenyl-4,5-dioximino-2-pyrazolines (2) upon reaction with phenylhydrazine. The compounds 2 were dehydrated to 6-sul)stituted-4-phenyl-4H-pyrazolo[3,4-c]furazans. (3) and thermal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c94dca04626778603478e966dc50220
https://doi.org/10.1002/jhet.5570060309