Zobrazeno 1 - 10 of 119 pro vyhledávání: '"M, Danciger"'
1
Mutation analysis of ocular genes
Autor: M, Danciger
Publikováno v: Methods in molecular medicine. 47
The RHO gene, which encodes rhodopsin, was the first gene in which mutations were found that were associated with an inherited retinal disease (1). RHO was examined by exon screening in a large population of patients with autosomal dominant retinitis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::47fa9b44465fd2724c36390b9d2f5283
https://pubmed.ncbi.nlm.nih.gov/21394588
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2
Title Page / Table of Contents / Abstracts
Autor: A. Kumamoto, Rosalyn Slater, A. Geurts van Kessel, J.W. Wessels, B.M. Cattanach, E.J. Dreef, R.E. Kibbelaar, G. Otulakowski, Charles E. Schwartz, S. Parikh, G.J. den Ottolander, J. George, I. Hansmann, U. Francke, G.M. Greig, H. Nakai, M.G. Byers, F. Yang, S. Boularand, Roger E. Stevenson, N.S.-F. Ma, J. Hayakawa, L.-C. Tsui, D.W. Threadgill, S. Kubota, D.H. Ledbetter, J. Spencer, I.A. Noordermeer, D.B. Farber, T.B. Nesterova, J.E. Womack, C.A. Kozak, L. Shi, C. Collet, M.C. Phelan, M. Vercruyssen, W.E. Fibbe, J. Mallet, H.F. Willard, E.P. Evans, C. Hanson, R.G. Taylor, N.B. Rubtsov, L.T. Williams, Andries Westerveld, R.G. Lafreniere, S. Navankasattusas, C. Szpirer, C.-L. Hsieh, C. Rasberry, E. Solomon, M.A. Abruzzo, M. Rivière, D.S. Gerhard, J.A. Escobedo, S.I. Radjabli, S.W. Scherer, D. Sheer, I.V. Nikitina, R.H. Brakenhoff, J.A. Miller, T.A. Jones, K.I. Kivirikko, T.J.M. Hulsebos, R.R. Mclnnes, T. Koizumi, M.C. Darmon, A. Goddard, P. Stanislovitis, S.P. Craig, N.J. Nowak, V.E. Powers, M.C. Simmler, S.M. Zakian, Y. Nakai, A.C.B. Peters, M. Kimura, J. Szpirer, M. Danciger, L. Dandolo, M. Westerman, M. van der Ploeg, L. Pajunen, E.P.J. Arnoldus, A.K. Raap, G.C. Beverstock, S. Schnittger, M. Katsuki, V.G. Matveeva, T. Shinohara, J. García-Heras, S.C. Bock, T.B. Shows, K. Klinger, A.P. Jackson, H. van Kamp, Franki Speleman, D.S. Gallagher, P.M. Kluin, A. Kuwano, T. Kajii, H.A. Taylor, B. Redeker, P. Van Oostveldt, T. Pihlajaniemi, JG Leroy, G.N. Hendy, Marcel M.A.M. Mannens, I.W. Craig, P. Avner, T. Abe, B.H. Robinson, V.L. Singer, P. Parham, E.K. Bijlsma, G. Levan, S. Kohno, S.J. Sadler, V.V.N.G. Rao
Publikováno v: Cytogenetic and Genome Research. 56:217-230
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e888a0000cd772662d09cc3e38fbce70
https://doi.org/10.1159/000133093
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3
Contents, Vol. 56, 1991
Autor: G. Levan, S.P. Craig, I.W. Craig, I.V. Nikitina, N.J. Nowak, T. Pihlajaniemi, C.A. Kozak, M.C. Simmler, H.A. Taylor, C. Collet, G.N. Hendy, C.-L. Hsieh, P. Van Oostveldt, R.G. Taylor, J.A. Miller, M.C. Darmon, A.C.B. Peters, J.W. Wessels, E. Solomon, M.A. Abruzzo, T. Abe, S.M. Zakian, M. Kimura, Y. Nakai, D. Sheer, B.M. Cattanach, Rosalyn Slater, Franki Speleman, P.M. Kluin, A. Kuwano, M. Westerman, S. Kohno, S.J. Sadler, N.S.-F. Ma, D.S. Gallagher, V.E. Powers, T.B. Shows, J. George, M. Van der Ploeg, K. Klinger, G.M. Greig, G. Otulakowski, M.C. Phelan, V.L. Singer, J. Szpirer, A.K. Raap, A. Geurts van Kessel, W.E. Fibbe, V.V.N.G. Rao, M. Vercruyssen, E.P. Evans, E.P.J. Arnoldus, E.J. Dreef, L.-C. Tsui, P. Parham, I. Hansmann, S. Parikh, L. Shi, L.T. Williams, R.E. Kibbelaar, J. Hayakawa, T. Kajii, M. Rivière, T. Shinohara, D.S. Gerhard, E.K. Bijlsma, M.G. Byers, A.P. Jackson, S.W. Scherer, S. Boularand, F. Yang, J. Mallet, J.A. Escobedo, Andries Westerveld, H.F. Willard, Roger E. Stevenson, R.R. Mclnnes, P. Stanislovitis, H. van Kamp, D.W. Threadgill, T. Koizumi, T.B. Nesterova, J.E. Womack, N.B. Rubtsov, T.A. Jones, T.J.M. Hulsebos, M. Danciger, S. Kubota, M. Katsuki, D.H. Ledbetter, S. Navankasattusas, C. Szpirer, V.G. Matveeva, S.I. Radjabli, L. Pajunen, R.H. Brakenhoff, J. García-Heras, G.C. Beverstock, S.C. Bock, Charles E. Schwartz, L. Dandolo, S. Schnittger, I.A. Noordermeer, C. Hanson, B.H. Robinson, A. Kumamoto, D.B. Farber, C. Rasberry, B. Redeker, K.I. Kivirikko, G.J. den Ottolander, H. Nakai, JG Leroy, Marcel M.A.M. Mannens, P. Avner, U. Francke, J. Spencer, R.G. Lafreniere, A. Goddard
Publikováno v: Cytogenetic and Genome Research. 56:I-IV
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ccd9e28c761fe1798e259ad03d77457
https://doi.org/10.1159/000133067
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4
Quantitative genetics of age-related retinal degeneration: a second F1 intercross between the A/J and C57BL/6 strains
Autor: M, Danciger, H, Yang, R, Ralston, Y, Liu, M T, Matthes, J, Peirce, M M, Lavail
Publikováno v: Molecular Vision
Purpose Previously, several quantitative trait loci (QTL) that influence age-related retinal degeneration (ageRD) were demonstrated in a cross between the C57BL/6J-c2J and BALB/cByJ strains (B x C). In this study, as a complementary approach to ongoi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b6a1a50aa341ce72bbd50cdddb35be0
https://pubmed.ncbi.nlm.nih.gov/17277741
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5
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene
Autor: M, Danciger, J, Hendrickson, J, Lyon, C, Toomes, J C, McHale, G A, Fishman, C F, Inglehearn, S G, Jacobson, D B, Farber
Publikováno v: Investigative ophthalmologyvisual science. 42(11)
To determine the locus of the mutant gene causing autosomal recessive cone-rod dystrophy (arCRD) in a consanguineous pedigree, to evaluate a candidate gene expressed in retina that maps to this locus, and to estimate the percentage of arCRD cases cau
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6c768bcbc75f62982955b1a8c56fc365
https://pubmed.ncbi.nlm.nih.gov/11581183
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6
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy
Autor: W J, Poehner, M, Fossarello, A L, Rapoport, T S, Aleman, A V, Cideciyan, S G, Jacobson, A F, Wright, M, Danciger, D B, Farber
Publikováno v: Molecular vision. 6
We have been engaged in an ongoing study to screen candidate genes for mutations in small families with various forms of autosomal recessive retinal dystrophy. Here we report the screening of a cohort of 14 families from Sardinia for mutations in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f02c2415dac59cb9fd9e2cf59336717e
https://pubmed.ncbi.nlm.nih.gov/11062306
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7
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations
Autor: Y Q, Gao, M, Danciger, R, Longmuir, N I, Piriev, D Y, Zhao, J R, Heckenlively, G A, Fishman, R G, Weleber, S G, Jacobson, E M, Stone, D B, Farber
Publikováno v: Investigative ophthalmologyvisual science. 40(8)
To screen the exons of the gene encoding the alpha'-subunit of cone cyclic guanosine monophosphate (cGMPphosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79b998ccc7a6509a7e7b9bcee41b6661
https://pubmed.ncbi.nlm.nih.gov/10393054
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8
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease
Autor: Y Q, Gao, M, Danciger, N B, Akhmedov, D Y, Zhao, J R, Heckenlively, G A, Fishman, R G, Weleber, S G, Jacobson, D B, Farber
Publikováno v: Molecular vision. 4
To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f527b4a0ce421dd1430669b30a295ad7
https://pubmed.ncbi.nlm.nih.gov/9743540
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10
The gene for retinal rod 33-kDa protein is on mouse chromosome 1, near Lamb2
Autor: M, Danciger, C A, Kozak, T, Abe, T, Shinohara, D B, Farber
Publikováno v: Cytogenetics and cell genetics. 56(3-4)
A water-soluble protein (called "33-kDa protein") that exhibits light-dependent phosphorylation has been shown to be a major protein of mammalian rod photoreceptors. Although the function of this protein is unknown, it has been implicated in the bioc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9f070ee16b5ea64841554cb1bab23a59
https://pubmed.ncbi.nlm.nih.gov/1675982
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