Isolation of a candidate gene for Norrie disease by positional cloning

Autor: W. Berger, A. Meindl, T.J.R. van de Pol, F.P.M. Cremers, H.H. Ropers, C. Döerner, A. Monaco, A.A.B. Bergen, R. Lebo, M. Warburg, L. Zergollern, B. Lorenz, A. Gal, E.M. Bleeker-Wagemakers, T. Meitinger

Publikováno v: Nature genetics, 1(3), 199-203. Nature Publishing Group
Nature genetics, 2(1). Nature Publishing Group

The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71e555e085439ecaf331a3f50c04e70
https://doi.org/10.1038/ng0692-199

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Localization of a novel X-linked progressive cone dystrophy gene to Xq27 : Evidence for genetic heterogeneity

Autor: A.A.B. Bergen, Alfred J. L. G. Pinckers

Publikováno v: American Journal of Human Genetics, 60, 1468-1473
American Journal of Human Genetics, 60, pp. 1468-1473
American Journal of Human Genetics, 60, 6, pp. 1468-1473
American journal of human genetics, 60(6), 1468-1473. Cell Press

Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. In a large pedigree segregating XLPCD, by use of > or = 27 markers span

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11214c018ea33661a958c2ef05a8cfcb
http://hdl.handle.net/2066/28605

Subject Index Vol. 62, 1993

Autor: N. Aoki, H.A. Phillips, S. Ohta, H.M. Kozman, D. Simon, G.R. Sutherland, E.M. Bleeker-Wagemakers, D.S. Gallagher, Z. Tümer, M.C. Kurth, G.J.B. van Ommen, M.C. Wapenaar, M. Schmid, E. Bakker, R.H. Martin, C. Jeanpierre, Y. Nakamura, M M Le Beau, E. Baker, W.L. Neuman, P.J. Diergaarde, B.B. Knowles, T.A. Jones, C. Junien, S. Mazan, Y.D. Patel, B.D. Harris, A.M. Bowcock, P. Laslo, E. Dietzsch, D.F. Callen, J.L. Fernández-García, T. Kristensen, J.P. Banga, B.K. May, M. Dixon, J.J. Pérez-Regadera, H. Lerach, N. Tommerup, A. Kimura, M. Guttenbach, L.M. Duncan, O.M. Garson, R.I. Barnes, E. Austruy, Ca. Westbrook, J. Santos, A. Kato, M. Martínez-Trancón, A.M. McGregor, G.P. Di Meo, M.-G. Mattéi, A. Rabasco, S. Toyota, L. Iannuzzi, A. Pellicer, D. Sheer, J.H. Kurth, L.-H. Qu, C. Rudduck, C. Steinlein, A.N. Silahtaroglu, P.S. Barnett, M. Cohen-Salmon, J.L. Omdahl, C.N. Hahn, I. Rodriguez de Ledesma, N. Roeckel, L. Sottrup-Jensen, E.J.M. Schuurman, J.A. Padilla, A.M. Ryan, B. Weiffenbach, A.A.B. Bergen, J.E. Womack, R. Espinosa, T. Sasazuki, J.-P. Bachellerie, A.P. Monaco, H. Nishi, J.C. Mulley, S. Hirosawa, S.A. Whitmore

Publikováno v: Cytogenetic and Genome Research. 62:248-248

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cfb57233690d8a62c97f6a1ecf635a4f
https://doi.org/10.1159/000133488

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