X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (187) 187
science & technology (182) 182
life sciences & biomedicine (170) 170
male (132) 132
female (129) 129
ophthalmology (104) 104
adult (77) 77
mutation (71) 71
genetics & heredity (67) 67
electroretinography (64) 64
retinitis pigmentosa - genetics (63) 63
animals (60) 60
pedigree (60) 60
middle aged (58) 58
eye diseases (55) 55
mice (53) 53
retinitis pigmentosa (53) 53
abridged index medicus (51) 51
child (46) 46
adolescent (41) 41
aged (40) 40
molecular sequence data (38) 38
retinal degeneration - genetics (38) 38
genetic aspects (37) 37
eye proteins - genetics (35) 35
retina (35) 35
sense organs (34) 34
dna mutational analysis (33) 33
genetic structures (32) 32
research (32) 32
genes, dominant (30) 30
phenotype (29) 29
retinal degeneration (28) 28
rod-cone dystrophy (28) 28
base sequence (27) 27
mice, inbred c57bl (27) 27
genetics (26) 26
chromosome mapping (25) 25
retinal degeneration - pathology (25) 25
amino acid sequence (23) 23
biochemistry & molecular biology (23) 23
disease models, animal (23) 23
child, preschool (22) 22
fluorescein angiography (22) 22
fundus oculi (22) 22
genotype (22) 22
visual acuity (22) 22
macular degeneration (19) 19
macular degeneration - genetics (19) 19
research article (18) 18
retina - pathology (18) 18
analysis (17) 17
photoreceptors (17) 17
retrospective studies (17) 17
visual fields (17) 17
genes (16) 16
genetic linkage (16) 16
physiological aspects (16) 16
polymerase chain reaction (16) 16
diagnosis (15) 15
infant (15) 15
membrane proteins - genetics (15) 15
mice, mutant strains (15) 15
polymorphism, single nucleotide (15) 15
retinitis pigmentosa - pathology (15) 15
sequence analysis, dna (15) 15
alleles (14) 14
mutation - genetics (14) 14
retina - metabolism (14) 14
retinitis pigmentosa - diagnosis (14) 14
cone-rod dystrophy (13) 13
exons (13) 13
retina - physiopathology (13) 13
autoantibodies - blood (12) 12
blotting, western (12) 12
disease (12) 12
gene mutations (12) 12
multidisciplinary sciences (12) 12
polymorphism, single-stranded conformational (12) 12
retinitis pigmentosa - physiopathology (12) 12
reverse transcriptase polymerase chain reaction (12) 12
science & technology - other topics (12) 12
aged, 80 and over (11) 11
eye proteins - metabolism (11) 11
genes, recessive (11) 11
patients (11) 11
retinal degeneration - diagnosis (11) 11
retinal degeneration - physiopathology (11) 11
retinal diseases (11) 11
risk factors (11) 11
tomography, optical coherence (11) 11
visual acuity - physiology (11) 11
visual fields - physiology (11) 11
bardet-biedl syndrome (10) 10
blindness (10) 10
genetic variation (10) 10
genomes (10) 10
genomics (10) 10
ophthalmoscopy (10) 10
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Chen, W and Stambolian, D and Edwards, A. O and Branham, K. E and Othman, M and Jakobsdottir, J and Tosakulwong, N and Pericak-Vance, M. A and Campochiaro, P. A and Klein, M. L and Tan, P. L and Conley, Y. P and Kanda, A and Kopplin, L and Li, Y and Augustaitis, K. J and Karoukis, A. J and Scott, W. K and Agarwal, A and Kovach, J. L and Schwartz, S. G and Postel, E. A and Brooks, M and Baratz, K. H and Brown, W. L and Brucker, A. J and Orlin, A and Brown, G and Ho, A and Regillo, C and Donoso, L and Tian, L and Kaderli, B and Hadley, D and Hagstrom, S. A and Peachey, N. S and Klein, R and Klein, B. E. K and Gotoh, N and Yamashiro, K and Ferris, F and Fagerness, J. A and Reynolds, R and Farrer, L. A and Kim, I. K and Miller, J. W and Corton, M and Carracedo, A and Sanchez-Salorio, M and Pugh, E. W and Doheny, K. F and Brion, M and DeAngelis, M. M and Weeks, D. E and Zack, D. J and Chew, E. Y and Heckenlively, J. R and Yoshimura, N and Iyengar, S. K and Francis, P. J and Katsanis, N and Seddon, J. M and Haines, J. L and Gorin, M. B and Abecasis, G. R and Swaroop, A and Johnson, R. N and Ai, E and McDonald, H. R and Stolarczuk, M and Pavan, P. R and Billiris, K. K and Iyer, M and Menosky, M. M and Pautler, S. E and Millard, S. M and Hubbard, B and Aaberg, T and DuBois, L and Lyon, A and Anderson-Nelson, S and Jampol, L. M and Weinberg, D. V and Munana, A and Rozenbajgier, Z and Orth, D and Cohen, J and MacCumber, M and Figliulo, C and Porcz, L and Folk, J and Boldt, H. C and Russell, S. R and Ivins, R and Hinz, C. J and Barr, C. C and Bloom, S and Jaegers, K and Kritchman, B and Whittington, G and ... and Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group and Complications Age-Related Macular and Complications of Age-Related Macular Degeneration Prevention Trial Research Group
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 04/2010, Volume 107, Issue 16, pp. 7401 - 7406
Journal Article
by Fritsche, Lars G and Chen, Wei and Schu, Matthew and Yaspan, Brian L and Yu, Yi and Thorleifsson, Gudmar and Zack, Donald J and Arakawa, Satoshi and Cipriani, Valentina and Ripke, Stephan and Igo, Robert P and Buitendijk, Gabriëlle H. S and Sim, Xueling and Weeks, Daniel E and Guymer, Robyn H and Merriam, Joanna E and Francis, Peter J and Hannum, Gregory and Agarwal, Anita and Armbrecht, Ana Maria and Audo, Isabelle and Aung, Tin and Barile, Gaetano R and Benchaboune, Mustapha and Bird, Alan C and Bishop, Paul N and Branham, Kari E and Brooks, Matthew and Brucker, Alexander J and Cade, William H and Cain, Melinda S and Campochiaro, Peter A and Chan, Chi-Chao and Cheng, Ching-Yu and Chew, Emily Y and Chin, Kimberly A and Chowers, Itay and Clayton, David G and Cojocaru, Radu and Conley, Yvette P and Cornes, Belinda K and Daly, Mark J and Dhillon, Baljean and Edwards, Albert O and Evangelou, Evangelos and Fagerness, Jesen and Ferreyra, Henry A and Friedman, James S and Geirsdottir, Asbjorg and George, Ronnie J and Gieger, Christian and Gupta, Neel and Hagstrom, Stephanie A and Harding, Simon P and Haritoglou, Christos and Heckenlively, John R and Holz, Frank G and Hughes, Guy and Ioannidis, John P. A and Ishibashi, Tatsuro and Joseph, Peronne and Jun, Gyungah and Kamatani, Yoichiro and Katsanis, Nicholas and N Keilhauer, Claudia and Khan, Jane C and Kim, Ivana K and Kiyohara, Yutaka and Klein, Barbara E. K and Klein, Ronald and Kovach, Jaclyn L and Kozak, Igor and Lee, Clara J and Lee, Kristine E and Lichtner, Peter and Lotery, Andrew J and Meitinger, Thomas and Mitchell, Paul and Mohand-Saïd, Saddek and Moore, Anthony T and Morgan, Denise J and Morrison, Margaux A and Myers, Chelsea E and Naj, Adam C and Nakamura, Yusuke and Okada, Yukinori and Orlin, Anton and Ortube, M Carolina and Othman, Mohammad I and Pappas, Chris and Park, Kyu Hyung and Pauer, Gayle J. T and Peachey, Neal S and Poch, Olivier and Priya, Rinki Ratna and Reynolds, Robyn and Richardson, Andrea J and Ripp, Raymond and Rudolph, Guenther and Ryu, Euijung and ... and unav and AMD Gene Consortium and The AMD Gene Consortium
Nature genetics, ISSN 1546-1718, 03/2013, Volume 45, Issue 4, pp. 433 - 439
Journal Article
by Fritsche, Lars G and Igl, Wilmar and Bailey, Jessica N Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L and Burdon, Kathryn P and Hebbring, Scott J and Wen, Cindy and Gorski, Mathias and Kim, Ivana K and Cho, David and Zack, Donald and Souied, Eric and Scholl, Hendrik P N and Bala, Elisa and Lee, Kristine E and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Valentina and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T E and Guymer, Robyn H and Johnson, Matthew P and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabriëlle H S and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratnapriya, Rinki and Branham, Kari E and Foerster, Johanna R and Heckenlively, John R and Othman, Mohammad I and Vote, Brendan J and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A and Constable, Ian J and Craig, Jamie E and Kitchner, Terrie E and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Stark, Klaus and von Strachwitz, Claudia N and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise J and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and Tsironi, Evangelia E and Park, Kyu Hyung and Farrer, Lindsay A and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Saïd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela J and Rennie, Christina A and Goverdhan, Srinivas V and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G and Blond, Frédéric and Blanché, Hélène and Deleuze, Jean-François and Igo, Robert P and Truitt, Barbara and Peachey, Neal S and Meuer, Stacy M and Myers, Chelsea E and Moore, Emily L and Klein, Ronald and ...
Nature genetics, ISSN 1546-1718, 12/2015, Volume 48, Issue 2, pp. 134 - 143
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Macular degeneration | Genetic variation | Development and progression | Genetic aspects | Gene expression | Identification and classification | Health aspects | Proteins | Studies | Confidence intervals | Datasets | Angiogenesis | Data analysis | Genealogy | Disease | Genomics | Quality control | Genomes | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 8/2010, Volume 107, Issue 35, pp. 15523 - 15528
Retinal degenerative diseases, such as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untreatable blindness with substantive... 
Phenotypes | Exons | Retinitis pigmentosa | Genes | Retinal degeneration | Photoreceptors | Lipids | Retina | Genetic mutation | Retinal diseases | Lipid enzyme | Visual dysfunction | Gene discovery | Phospholipid remodeling | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Immunoblotting | Photoreceptor Cells, Vertebrate - chemistry | Chromatography, High Pressure Liquid | Retinal Degeneration - metabolism | DNA Mutational Analysis | Mice, Mutant Strains | Base Sequence | Mice, Inbred DBA | Phosphatidylcholines - analysis | Microscopy, Electron, Transmission | Photoreceptor Cells, Vertebrate - ultrastructure | 1-Acylglycerophosphocholine O-Acyltransferase - genetics | Retinal Degeneration - genetics | Mice, Inbred C57BL | Retinitis Pigmentosa - genetics | Chromosome Mapping | Leber Congenital Amaurosis - genetics | Mice, Inbred Strains | Reverse Transcriptase Polymerase Chain Reaction | Mice, Inbred C3H | Blotting, Northern | Animals | Mice | Mice, Inbred BALB C | Lipids - analysis | Photoreceptor Cells, Vertebrate - metabolism | Retinal Degeneration - pathology | 1-Acylglycerophosphocholine O-Acyltransferase - metabolism | Composition | Genetic aspects | Health aspects | Transferases | Blindness | Macular degeneration | Enzymes | Rodents | Homeostasis | Mutation | Chromosomes | Index Medicus | visual dysfunction | Biological Sciences | retinal degeneration | phospholipid remodeling | gene discovery | lipid enzyme
Journal Article