Cardiac disease in myotonic dystrophy

Autor: M.F. Phillips, P.S. Harper

Publikováno v: Cardiovascular Research. 33:13-22

Cardiac disease is a well-known complication of myotonic dystrophy, understanding of which has been increased by recent advances in both molecular techniques and cardiological investigations. Conduction disturbances and tachyarrhythmias occur commonl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d482c462ee37834ff78f7ca5132918
https://doi.org/10.1016/s0008-6363(96)00163-0

Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

Autor: S.A.M. Taylor, R.G. Snell, A. Buckler, C. Ambrose, M. Duyao, D. Church, C.S. Lin, M. Altherr, G.P. Bates, N. Groot, G. Barnes, D.J. Shaw, H. Lehrach, J.J. Wasmuth, P.S. Harper, D.E. Housman, M.E. MacDonald, J.F. Gusella

Publikováno v: Nature genetics. 2(3)

We have applied the technique of exon amplification to the isolation of genes from the chromosome 4p16.3 Huntington's disease (HD) candidate region. Exons recovered from cosmid Y24 identified cDNA clones corresponding to the alpha-subunit of adducin,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c34bae82981c61405022ddcbb0e220
https://pubmed.ncbi.nlm.nih.gov/1345173

Abstracts of workshop presentations pp. 1106-1116

Autor: F. Mitelman, O.W. McBride, C. Park, F.H. Ruddle, L.L. Field, S.L. Sherman, S.T. Reeders, R.C. Douté, D. Ryan, J.M. Puck, C.E. Hildebrand, W.P. Alles, K.K. Kidd, M M Le Beau, A.M. Bowcock, R.L. Miller, M.A. Spence, T.H. Roderick, R.K. Track, G.R. Sutherland, J.-L. Mandel, D.R. Cox, M. Conneally, M.L. Mador, Frank H. Ruddle, A. Bale, E. Solomon, T.G. Berent, D.P. Doolittle, G. Romeo, A.J. Pakstis, K. Kubzdela, M.E. Hawley, T.A. Donlon, P.N. Goodfellow, R.L. Nussbaum, T.B. Shows, N. Creau-Goldberg, G.A.P Bruns, J. Weissenbach, M. Farrall, R.E. Ferrell, J.A. Rogers, M.A. FergusonSmith, K.E. Davies, A. Schinzel, J.A.M. Graves, J.J. Wasmuth, M.A. Pericak-Vance, L. Giuffra, F. Ricciuti, G.L. Schiff, A.L. Hillyard, P.J. McAlpine, M.T. Davisson, C. Junien, G. Hutchings, Y. Kaneko, D.H. Ledbetter, B. Carritt, N.E. Simpson, J. Ott, P.A. Lalley, Kenneth K. Kidd, H.S. Chan, J.E. Womack, C.T. Falk, H.-H. Ropers, D.T. Bishop, S. Povey, S.L. Naylor, H. Donis-Keller, D.W. Cox, J. Schmidtke, I.W. Craig, D.F. Barker, L.C. Stranc, L.-C. Tsui, J. Frézal, J. Gelernter, K.D. Smith, D.C. Wallace, P. Pearson, K.H. Buetow, P. Cartwright, P.S. Harper, S.J. O'Brien, M. Litt, N.K. Spurr, F. Lewitter, M.L. Cavanaugh, J.C. Murray, M. Smith, B. Keats, J.-C. Kaplan, H.F. Willard, C. Boucheix, B.S. Emanuel, J.M. Trent

Publikováno v: Cytogenetic and Genome Research. 51:1106-1116

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f1fe0968607c7b002486e52d6ba97751
https://doi.org/10.1159/000227827

Abstracts of workshop presentations pp. 1075-1091

Autor: J.A. Rogers, A.J. Pakstis, G.A.P Bruns, J. Weissenbach, M. Farrall, M.L. Mador, K. Kubzdela, M.E. Hawley, T.A. Donlon, A.L. Hillyard, L.C. Stranc, D.P. Doolittle, P.J. McAlpine, J.A.M. Graves, T.B. Shows, D.W. Cox, B.S. Emanuel, F.H. Ruddle, F. Mitelman, N.E. Simpson, G.L. Schiff, J.M. Puck, K.K. Kidd, D. Ryan, Frank H. Ruddle, S.L. Sherman, G. Hutchings, S. Povey, L.L. Field, J. Ott, D.R. Cox, D.H. Ledbetter, D.C. Wallace, S.L. Naylor, R.L. Miller, H.F. Willard, J.M. Trent, C.E. Hildebrand, B. Carritt, C. Boucheix, P.A. Lalley, C. Park, T.H. Roderick, R.K. Track, M. Conneally, H. Donis-Keller, P. Pearson, D.F. Barker, H.-H. Ropers, K.H. Buetow, T.G. Berent, F. Lewitter, W.P. Alles, D.T. Bishop, P.S. Harper, M. Litt, J.J. Wasmuth, N.K. Spurr, Kenneth K. Kidd, L. Giuffra, H.S. Chan, J.-L. Mandel, C.T. Falk, J.E. Womack, J. Schmidtke, J.C. Murray, J.-C. Kaplan, R.E. Ferrell, J. Frézal, J. Gelernter, K.D. Smith, M.L. Cavanaugh, M.A. Spence, I.W. Craig, M. Smith, B. Keats, F. Ricciuti, M.T. Davisson, C. Junien, L.-C. Tsui, N. Creau-Goldberg, O.W. McBride, S.T. Reeders, R.C. Douté, M M Le Beau, P. Cartwright, S.J. O'Brien, M.A. FergusonSmith, A. Bale, E. Solomon, G. Romeo, K.E. Davies, A. Schinzel, P.N. Goodfellow, R.L. Nussbaum, A.M. Bowcock, G.R. Sutherland, M.A. Pericak-Vance, Y. Kaneko

Publikováno v: Cytogenetic and Genome Research. 51:1075-1091

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::423cca730433f57e3eef52ad9c4960b0
https://doi.org/10.1159/000227825

Abstracts of workshop presentations pp. 948-967

Autor: F.H. Ruddle, B.S. Emanuel, S. Povey, M.A. Pericak-Vance, D. Ryan, S.L. Naylor, K. Kubzdela, M.E. Hawley, T.A. Donlon, D.W. Cox, C. Park, D.F. Barker, Y. Kaneko, R.L. Miller, M.L. Cavanaugh, M. Smith, B. Keats, D.C. Wallace, Kenneth K. Kidd, A. Bale, N. Creau-Goldberg, M.L. Mador, A.M. Bowcock, W.P. Alles, G.R. Sutherland, J.-L. Mandel, J. Ott, E. Solomon, A.L. Hillyard, T.B. Shows, M. Conneally, T.G. Berent, J.C. Murray, J.-C. Kaplan, G. Romeo, M.A. FergusonSmith, P. Cartwright, P.J. McAlpine, D.P. Doolittle, J.M. Trent, F. Mitelman, P.N. Goodfellow, S.J. O'Brien, J.A. Rogers, H.-H. Ropers, M.A. Spence, P.A. Lalley, D.T. Bishop, N.E. Simpson, J. Frézal, T.H. Roderick, J.M. Puck, J. Gelernter, K.D. Smith, K.K. Kidd, P. Pearson, R.L. Nussbaum, O.W. McBride, S.T. Reeders, H. Donis-Keller, D.H. Ledbetter, B. Carritt, R.C. Douté, K.E. Davies, A. Schinzel, M M Le Beau, L.L. Field, F. Lewitter, C.E. Hildebrand, F. Ricciuti, M.T. Davisson, L.C. Stranc, R.E. Ferrell, C. Junien, L.-C. Tsui, I.W. Craig, J.E. Womack, K.H. Buetow, G.L. Schiff, G. Hutchings, C.T. Falk, H.F. Willard, C. Boucheix, J. Schmidtke, R.K. Track, P.S. Harper, M. Litt, H.S. Chan, N.K. Spurr, Frank H. Ruddle, J. Weissenbach, M. Farrall, J.A.M. Graves, J.J. Wasmuth, L. Giuffra, S.L. Sherman, D.R. Cox, A.J. Pakstis, G.A.P Bruns

Publikováno v: Cytogenetic and Genome Research. 51:948-967

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e2a10f72a8b7c751a2186087def4b30b
https://doi.org/10.1159/000133100