Two mouse retinal degenerations caused by missense mutations in the β-subunit of rod cGMP phosphodiesterase gene

Autor: N.L. Hawes, John M. Nickerson, Machelle T. Pardue, B. Chang, Jeffrey H Boatright, M.T. Davisson, M.J. Phillips, R. Chaudhury, Amber P. Boyd, Kalpana Rengarajan, R.E. Hurd, Steven Nusinowitz, John R. Heckenlively, S. S. Sidney, A.M. German, R. E. Stewart

Publikováno v: Vision Research. 47(5):624-633

We report the chromosomal localization, mutant gene identification, ophthalmic appearance, histology, and functional analysis of two new hereditary mouse models of retinal degeneration not having the Pde6brd1("r", "rd", or "rodless") mutation. One st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032e17a6d222770426354b0b041e7fba

Abstracts for the committee on the genetic constitution of chromosome 21

Autor: J. Schmidtke, D. Louis, M. Skolnick, Brien, S. Malik, P. Fain, M.T. Davisson, S. Naylor, D. Hewett, P. Pearson, A. Menon, D.N. Cooper, D.L. Neil, M. Tolley, A.-M. Frischauf, P. Goodfellow, K. Langley, K. Klinger, J. Frézal, Christopher J. Rawlings, C. Coutelle, E. Chang, A. Torroni, J.M. Shoffner, A. Bowcock, B. Maidak, H. Lehrach, P. Simpson, B.J.B. Keats, B. Ponder, A.L. Hillyard, F. Mitelman, D. Cox, Judi E. Hewitt, M M Le Beau, T. Monaco, J.A. Marshall Graves, M. Chipperfield, M.T. Lott, P.A. Lalley, P. Ceverha, C. Linch, J. Peters, J. Ott, A.v. Deimling, Y. Nakamura, B.R. Seizinger, Y. Kaneko, C. Brunn, B. Emanuel, D.T. Bishop, R. Williamson, J. Decker, N. Affara, M. Kaelbling, H.P. Klinger, D.C. Wallace, W. Cavenee, A. Schinzel, J.M. Trent, I. Henry, C. Junien, S.H. Laval, D.P. Doolittle, I. Newsham, Frank H. Collins, S. Mercer, J. Beckmann, R.E. Lucier, K. Kidd, E. Southern, Gareth Maslen, R.J. Robbins, B. Keats, A.G. Searle, S.L. Sherman, S. Bryant

Publikováno v: Cytogenetic and Genome Research. 58:2034-2043

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da3871b170b218794e41cd5492151a9e
https://doi.org/10.1159/000133755

Abstracts for the committee on the genetic constitution of chromosome 17

Autor: P. Pearson, K. Klinger, K. Kidd, E. Southern, J. Beckmann, A.-M. Frischauf, Christopher J. Rawlings, D.C. Wallace, R.E. Lucier, D.T. Bishop, A. Schinzel, A. Menon, H. Lehrach, P. Simpson, M. Chipperfield, M.T. Lott, Y. Nakamura, E. Chang, J. Schmidtke, P.A. Lalley, P. Ceverha, C. Linch, D. Hewett, J. Peters, Brien, P. Goodfellow, B. Emanuel, S. Malik, W. Cavenee, A. Torroni, M. Skolnick, S. Bryant, R. Williamson, J. Ott, D.P. Doolittle, I. Newsham, Y. Kaneko, D.L. Neil, H.P. Klinger, C. Coutelle, S.L. Sherman, K. Langley, M.T. Davisson, J. Decker, N. Affara, M. Kaelbling, C. Brunn, D. Cox, Frank H. Collins, S. Mercer, M M Le Beau, D. Louis, S. Naylor, A. Bowcock, A.v. Deimling, A.L. Hillyard, B.R. Seizinger, Gareth Maslen, J. Frézal, R.J. Robbins, B. Keats, B.J.B. Keats, A.G. Searle, M. Tolley, P. Fain, I. Henry, B. Ponder, D.N. Cooper, F. Mitelman, J.M. Shoffner, B. Maidak, Judi E. Hewitt, T. Monaco, J.A. Marshall Graves, C. Junien, S.H. Laval, J.M. Trent

Publikováno v: Cytogenetic and Genome Research. 58:2004-2012

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88885444a7784bbf51ee2bec580a2901
https://doi.org/10.1159/000133751

Abstracts for the committee on linkage and gene order

Autor: S.L. Sherman, D.L. Neil, D.N. Cooper, E. Chang, K. Langley, A. Menon, A. Torroni, A.L. Hillyard, C. Brunn, M.T. Lott, C. Junien, K. Kidd, C. Coutelle, M.T. Davisson, Y. Nakamura, J. Frézal, B. Emanuel, J. Decker, E. Southern, M M Le Beau, S. Naylor, J. Schmidtke, D. Louis, D. Cox, Brien, Frank H. Collins, S. Mercer, B.J.B. Keats, P.A. Lalley, P. Ceverha, D. Hewett, S. Bryant, M. Tolley, H.P. Klinger, S. Malik, Y. Kaneko, W. Cavenee, M. Chipperfield, M. Skolnick, Gareth Maslen, S.H. Laval, C. Linch, J. Peters, B.R. Seizinger, J. Beckmann, D.P. Doolittle, I. Newsham, Christopher J. Rawlings, J. Ott, R.J. Robbins, B. Keats, A.G. Searle, R.E. Lucier, F. Mitelman, J.M. Trent, H. Lehrach, P. Simpson, A. Bowcock, D.C. Wallace, A.v. Deimling, R. Williamson, P. Fain, K. Klinger, P. Goodfellow, N. Affara, M. Kaelbling, B. Ponder, A. Schinzel, I. Henry, P. Pearson, A.-M. Frischauf, D.T. Bishop, J.M. Shoffner, B. Maidak, Judi E. Hewitt, T. Monaco, J.A. Marshall Graves

Publikováno v: Cytogenetic and Genome Research. 58:2109-2119

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::643504398f9addc667230d7676d0dcc3
https://doi.org/10.1159/000133761

Abstracts for the committee on the genetic constitution of chromosome 8

Autor: A.-M. Frischauf, J. Beckmann, B.R. Seizinger, A. Menon, C. Coutelle, R.E. Lucier, J.M. Shoffner, B.J.B. Keats, R. Williamson, B. Maidak, Frank H. Collins, S. Mercer, D. Louis, K. Kidd, E. Chang, C. Junien, Judi E. Hewitt, K. Klinger, T. Monaco, S. Bryant, Brien, J.A. Marshall Graves, D.C. Wallace, E. Southern, D. Hewett, A. Torroni, A. Bowcock, M M Le Beau, Gareth Maslen, B. Emanuel, A. Schinzel, D.L. Neil, S.H. Laval, D. Cox, J. Ott, P. Fain, C. Brunn, F. Mitelman, H.P. Klinger, J. Frézal, K. Langley, N. Affara, M. Kaelbling, D.N. Cooper, R.J. Robbins, A.L. Hillyard, P. Goodfellow, B. Keats, A.G. Searle, J.M. Trent, S.L. Sherman, Christopher J. Rawlings, M. Tolley, P.A. Lalley, P. Ceverha, J. Schmidtke, M. Chipperfield, D.P. Doolittle, M.T. Davisson, C. Linch, J. Peters, I. Newsham, H. Lehrach, P. Simpson, B. Ponder, M. Skolnick, S. Naylor, J. Decker, S. Malik, Y. Kaneko, I. Henry, D.T. Bishop, A.v. Deimling, M.T. Lott, Y. Nakamura, W. Cavenee, P. Pearson

Publikováno v: Cytogenetic and Genome Research. 58:1928-1933

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::233b34f2503f8b47c8c1b80808202fac
https://doi.org/10.1159/000133742