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Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 11/2012, Volume 109, Issue 48, pp. 19691 - 19696
Journal Article
by Pinto, Dalila and Pagnamenta, Alistair T and Klei, Lambertus and Anney, Richard and Merico, Daniele and Regan, Regina and Conroy, Judith and Magalhaes, Tiago R and Correia, Catarina and Abrahams, Brett S and Almeida, Joana and Bacchelli, Elena and Bader, Gary D and Bailey, Anthony J and Baird, Gillian and Battaglia, Agatino and Berney, Tom and Bolshakova, Nadia and Bölte, Sven and Bolton, Patrick F and Bourgeron, Thomas and Brennan, Sean and Brian, Jessica and Bryson, Susan E and Carson, Andrew R and Casallo, Guillermo and Casey, Jillian and Chung, Brian H.Y and Cochrane, Lynne and Corsello, Christina and Crawford, Emily L and Crossett, Andrew and Cytrynbaum, Cheryl and Dawson, Geraldine and de Jonge, Maretha and Delorme, Richard and Drmic, Irene and Duketis, Eftichia and Duque, Frederico and Estes, Annette and Farrar, Penny and Fernandez, Bridget A and Folstein, Susan E and Fombonne, Eric and Freitag, Christine M and Gilbert, John and Gillberg, Christopher and Glessner, Joseph T and Goldberg, Jeremy and Green, Andrew and Green, Jonathan and Guter, Stephen J and Hakonarson, Hakon and Heron, Elizabeth A and Hill, Matthew and Holt, Richard and Howe, Jennifer L and Hughes, Gillian and Hus, Vanessa and Igliozzi, Roberta and Kim, Cecilia and Klauck, Sabine M and Kolevzon, Alexander and Korvatska, Olena and Kustanovich, Vlad and Lajonchere, Clara M and Lamb, Janine A and Laskawiec, Magdalena and Leboyer, Marion and Le Couteur, Ann and Leventhal, Bennett L and Lionel, Anath C and Liu, Xiao-Qing and Lord, Catherine and Lotspeich, Linda and Lund, Sabata C and Maestrini, Elena and Mahoney, William and Mantoulan, Carine and Marshall, Christian R and McConachie, Helen and McDougle, Christopher J and McGrath, Jane and McMahon, William M and Merikangas, Alison and Migita, Ohsuke and Minshew, Nancy J and Mirza, Ghazala K and Munson, Jeff and Nelson, Stanley F and Noakes, Carolyn and Noor, Abdul and Nygren, Gudrun and Oliveira, Guiomar and Papanikolaou, Katerina and Parr, Jeremy R and Parrini, Barbara and Paton, Tara and Pickles, Andrew and Pilorge, Marion and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature (London), ISSN 1476-4687, 06/2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article
Journal Article
PLoS genetics, ISSN 1553-7390, 03/2010, Volume 6, Issue 3, pp. e1000884 - e1000884
Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6),... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Organ Specificity - drug effects | Ganglia - metabolism | Humans | Photoreceptor Cells, Vertebrate - drug effects | Molecular Sequence Data | Protein Transport - drug effects | Vision, Ocular - drug effects | RNA, Messenger - metabolism | Gene Knockdown Techniques | Protein Isoforms - metabolism | Mice, Mutant Strains | Protein Isoforms - chemistry | Bardet-Biedl Syndrome - pathology | Rod Opsins - metabolism | Reflex, Startle - drug effects | Bardet-Biedl Syndrome - genetics | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Bardet-Biedl Syndrome - complications | Amino Acid Sequence | Oligonucleotides, Antisense - pharmacology | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Zebrafish | Ganglia - pathology | Bardet-Biedl Syndrome - physiopathology | ADP-Ribosylation Factors - deficiency | Gene Expression Regulation - drug effects | Ganglia - drug effects | ADP-Ribosylation Factors - chemistry | Phenotype | Animals | Eye Abnormalities - pathology | Eye Abnormalities - physiopathology | Mice | Photoreceptor Cells, Vertebrate - metabolism | Zebrafish Proteins - genetics | Photoreceptor Cells, Vertebrate - pathology | Eye Abnormalities - complications | Protein Isoforms - genetics | Retinal degeneration | Physiological aspects | Development and progression | Genetic aspects | Genetic transcription | Vision | Index Medicus | Proteins | Hypertension | Obesity | Genotype & phenotype | Scholarships & fellowships | Genes | Colleges & universities | Retina | Diabetes | Eyes & eyesight | Embryos | Defects
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 04/2006, Volume 103, Issue 16, pp. 6287 - 6292
Journal Article