Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Pagon R"'
Autor:
Korenberg, J. R., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham,, J. M., Hudgins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1994 May . 91(11), 4997-5001.
Externí odkaz:
https://www.jstor.org/stable/2364898
Autor:
Cotton, RGH, Appelbe, W, Auerbach, AD, Becker, K, Bodmer, W, Boone, DJ, Boulyjenkov, V, Brahmachari, S, Brody, L, Brookes, A, Brown, AF, Byers, P, Maria Cantu, J, Cassiman, J-J, Claustres, M, Concannon, P, Den Dunnen, JT, Flicek, P, Gibbs, R, Hall, J, Hasler, J, Katz, M, Kwok, P-Y, Laradi, S, Lindblom, A, Maglott, D, Marsh, S, Masimirembwa, CM, Minoshima, S, De Ramirez, AMO, Pagon, R, Ramesar, R, Ravine, D, Richards, S, Rimoin, D, Ring, HZ, Scriver, CR, Sherry, S, Shimizu, N, Stein, L, Tadmouri, GO, Taylor, G, Watson, M
Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6688613467e71e93a7e0e538c3a6c7
https://ora.ox.ac.uk/objects/uuid:ac90752b-56e0-452e-a004-ea828ca69052
https://ora.ox.ac.uk/objects/uuid:ac90752b-56e0-452e-a004-ea828ca69052
Fine mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q21.3-q22.1
Autor:
Scherer, S. W., Poorkaj, P., Allen, T., Kim, J., Geshuri, D., Nunes, M., Soder, S., Stephens, K., Pagon, R. A., Patton, M. A., Berg, M. A., Donlon, T., Rivera, H., Pfeiffer, R. A., Naritomi, K., Hughes, H., Genuardi, M., Fiorella Gurrieri, Neri, G., Lovrein, E., Magenis, E., Tsui, L. -C, Evans, J. P.
Publikováno v:
Scopus-Elsevier
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7124b9dd498b466699bc2b3e8f7c3c5a
https://europepmc.org/articles/PMC1918243/
https://europepmc.org/articles/PMC1918243/
Autor:
Korenberg, J. R., Chen, X. N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S, Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham,, J. M., Hugdins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1994 Nov 01. 91(23), 11281-11281.
Externí odkaz:
https://www.jstor.org/stable/2365576
Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a43818ae50288338d3edbee1086c201d
https://europepmc.org/articles/PMC1683027/
https://europepmc.org/articles/PMC1683027/
Akademický článek
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Autor:
Tarczy-Hornoch P (AUTHOR), Shannon P (AUTHOR), Baskin P (AUTHOR), Espeseth M (AUTHOR), Pagon RA (AUTHOR), Tarczy-Hornoch, P1 (AUTHOR), Shannon, P (AUTHOR), Baskin, P (AUTHOR), Espeseth, M (AUTHOR), Pagon, R A (AUTHOR)
Publikováno v:
Journal of the American Medical Informatics Association. May2000, Vol. 7 Issue 3, p267-276. 10p.
Publikováno v:
Journal of Medical Genetics; Aug1985, Vol. 22 Issue 4, p267-273, 7p, 1 Diagram, 2 Charts
Autor:
Wardinsky, T. D., Pagon, R. A., Powell, B. R., McGillivray, B., Stephan, M., Zonana, J., Moser, A.
Publikováno v:
Clinical Genetics; Aug1990, Vol. 38 Issue 2, p84-93, 10p
Autor:
Mueller, R. F., Pagon, R. A., Pepin, M. G., Haas, J. E., Kawabori, I., Stevenson, J. G., Stephan, M. J., Blumhagen, J. D., Christie, D. L.
Publikováno v:
Clinical Genetics; Apr1984, Vol. 25 Issue 4, p323-331, 9p