Provider: Nature Publishing Group Content: application/x-research-info-systems TY - JOUR AU - Coleman, D.L. AU - Eicher, E.M. TI - Fat (fat) and Tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse JO - J. Hered. PY - 1990/// VL - 81 SP - 424 EP - 427 ER - TY - JOUR AU - Ohlemiller, K.K. TI - Cochlear and retinal degeneration in the tubby mouse JO - Neuroreport PY - 1995/// VL - 6, SP - 845 EP - 849 ER - TY - JOUR AU - Noben-Trauth, K. AU - Naggert, J.K. AU - North, M.A. AU - Nishina, P.M. TI - A candidate gene for the mouse mutation tubby JO - Nature PY - 1996/// VL - 380 SP - 534 EP - 538 M3 - 10.1038/380534a0 N1 - 10.1038/380534a0 UR - http://dx.doi.org/10.1038/380534a0 ER - TY - JOUR AU - Kleyn, P.W. TI - Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family JO - Cell PY - 1996/// VL - 85 SP - 281 EP - 290 M3 - 10.1016/S0092-8674(00)81104-6 N1 - 10.1016/S0092-8674(00)81104-6 UR - http://dx.doi.org/10.1016/S0092-8674(00)81104-6 ER - TY - JOUR AU - North, M.A. AU - Naggert, J.K. AU - Yan, Y. AU - Noben-Trauth, K. AU - Nishina, P.M. TI - Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases JO - Proc. Natl. .Acad. Sci. USA PY - 1997/// VL - 94 SP - 3128 EP - 3133 M3 - 10.1073/pnas.94.7.3128 N1 - 10.1073/pnas.94.7.3128 UR - http://dx.doi.org/10.1073/pnas.94.7.3128 ER - TY - JOUR AU - Knowles, J.A. TI - Identification of a locus, distinct from RDS-peripherin,for autosomal recessive retinitis pigmentosa on chromosome 6p JO - Hum. Mol. Genet. PY - 1994/// VL - 31 SP - 401 EP - 1403 ER - TY - JOUR AU - Shugart, Y.Y. TI - Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21 JO - Am. J. Hum. Genet. PY - 1995/// VL - 57 SP - 499 EP - 502 ER - TY - JOUR AU - Banerjee, P. TI - Co-segregation of a putative splice-site mutation in TULP1, a homologue of the mouse tub gene, in two Dominican pedigrees with autosomal recessive retinitis pigmentosa (RP14) JO - Nature Genet. PY - 1998/// VL - 18 SP - 177 EP - 179 M3 - 10.1038/ng0298-177 N1 - 10.1038/ng0298-177 UR - http://dx.doi.org/10.1038/ng0298-177 ER - TY - JOUR AU - Rosenfeld, P.J. TI - A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa JO - Nature Genet. PY - 1992/// VL - 1 SP - 209 EP - 213 ER - TY - JOUR AU - Kumaramanickavel, G. TI - Missense rhodopsin mutation in a family with recessive RP JO - Nature Genet. PY - 1994/// VL - 8 SP - 10 EP - 11 ER - TY - JOUR AU - McLaughlin, M.E. AU - Ehrhart, T.L. AU - Berson, E.L. AU - Dryja, T.P. TI - Mutation spectrum of the gene encoding the (3 subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa JO - Proc. Natl. Acad. Sci. USA PY - 1995/// VL - 92 SP - 3249 EP - 3253 ER - TY - JOUR AU - Danciger, M. TI - Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa JO - Genomics PY - 1995/// VL - 30 SP - 1 EP - 7 M3 - 10.1006/geno.1995.0001 N1 - 10.1006/geno.1995.0001 UR - http://dx.doi.org/10.1006/geno.1995.0001 ER - TY - JOUR AU - Bayes, M. TI - Homozygous tandem duplication within the gene encoding the (3-subunit of rod phosphodiesterase as a cause of autosomal recessive retinitis pigmentosa JO - Hum. Mut. PY - 1995/// VL - 5 SP - 228 EP - 234 ER - TY - JOUR AU - Huang, S.H. TI - Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase JO - Nature Genet. PY - 1995/// VL - 11 SP - 468 EP - 471 ER - TY - JOUR AU - Dryja, T.P. TI - Mutations in the gene encoding the a subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa JO - Proc. Natl. Acad. Sci. USA PY - 1995/// VL - 92 SP - 10177 EP - 10181 ER - TY - JOUR AU - Maw, M.A. TI - Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa JO - Nature Genet PY - 1997/// VL - 17 SP - 198 EP - 200 ER - TY - JOUR AU - Gu, S.M. TI - Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy JO - Nature Genet. PY - 1997/// VL - 17 SP - 194 EP - 197 ER - TY - JOUR AU - Berson, E.L. TI - Retinitis pigmentosa. The Friedenwald Lecture JO - Invest. Ophthalmol. Vis. Sci. PY - 1993/// VL - 34 SP - 1659 EP - 1676 ER - TY - JOUR AU - Sandberg, M.A. AU - Weigel-DiFranco, C. AU - Rosner, B. AU - Berson, E.L. TI - The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa JO - Invest. Ophthalmol. Vis. Sci. PY - 1996/// VL - 37 SP - 1693 EP - 1698 ER - TY - JOUR AU - Berson, E.L. AU - Rosner, B. AU - Sandberg, M.A. AU - Dryja, T.P. TI - Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro23His) JO - Arch. Ophthalmol. PY - 1991/// VL - 109 SP - 92 EP - 101 ER - TY - JOUR AU - Berson, E.L. AU - Rosner, B. AU - Sandberg, M.A. AU - Weigel-DiFranco, C. AU - Dryja, T.P. TI - Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine JO - Am. J. Ophthalmol. PY - 1991/// VL - 111 SP - 614 EP - 623 ER - TY - JOUR AU - Berson, E.L. AU - Rosen, J.B. AU - Simonoff, E.A. TI - Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa JO - Am. J. Ophthalmol. PY - 1979/// VL - 87 SP - 460 EP - 468 ER - TY - JOUR AU - Kunkel, L.M. TI - Analysis of human chromosome-specific reiterated DNA in chromosome variants JO - Proc.Natl. Acad. Sci. USA PY - 1977/// VL - 74 SP - 1245 EP - 1249 ER - TY - JOUR AU - Orita, M. AU - Iwahana, H. AU - Kanazawa, H. AU - Hayashi, K. AU - Sekiya, T. TI - Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms JO - Proc. Natl. Acad. Sci. USA PY - 1989/// VL - 86 SP - 2766 EP - 2770 ER -