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JAMA Ophthalmology, ISSN 2168-6165, 02/2017, Volume 135, Issue 2, p. 137
  Importance There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for... 
Genotype & phenotype | Eye diseases | Genetics | Ophthalmology
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 387, pp. S52 - S52
Abstract Background Juvenile onset retinal dystrophy presents at age 16 years or younger. It is genetically heterogeneous, and causal genes can be associated... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Retinal degeneration | Investigations
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2018, Volume 14, Issue 8, pp. e1007504 - e1007504
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 04/2017, Volume 135, Issue 4, p. 339
Importance Steroid 5a-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is... 
Genes | Myopia | Retina | Steroid 5α-reductase | Glycosylation | Genomes | Nyctalopia | Minority & ethnic groups | Acuity | Eye | Genotype & phenotype | DNA microarrays | Phenotyping | Nystagmus | Retinal degeneration | Mutation | Children | Dystrophy | Gene mapping | Age | Steroids | Reductase
Journal Article
by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article
by Kappos, Ludwig and Bar-Or, Amit and Cree, Bruce A C and Fox, Robert J and Giovannoni, Gavin and Gold, Ralf and Vermersch, Patrick and Arnold, Douglas L and Arnould, Sophie and Scherz, Tatiana and Wolf, Christian and Wallström, Erik and Dahlke, Frank and Achiron, Anat and Achtnichts, Lutz and Agan, Kadriye and Akman-Demir, Gulsen and Allen, Alison B and Antel, Jack P and Antiguedad, Alfredo Rodriguez and Apperson, Michelle and Applebee, Angela M and Ayuso, Guillermo Izquierdo and Baba, Masayuki and Bajenaru, Ovidiu and Balasa, Rodica and Balci, Belgin Petek and Barnett, Michael and Bass, Ann and Becker, Veit U and Bejinariu, Mihaela and Bergh, Florian Then and Bergmann, Arnfin and Bernitsas, Evanthia and Berthele, Achim and Bhan, Virender and Bischof, Felix and Bjork, Randall John and Blevins, Gregg and Boehringer, Matthias and Boerner, Thomas and Bonek, Robert and Bowen, James D and Bowling, Allen and Boyko, Alexey N and Boz, Cavit and Bracknies, Vera and Braune, Stefan and Brescia Morra, Vincenzo and Brochet, Bruno and Brola, Waldemar and Brownstone, Paul Kenneth and Brozman, Miroslav and Brunet, Donald and Buraga, Ioan and Burnett, Margaret and Buttmann, Mathias and Butzkueven, Helmut and Cahill, Jonathan and Calkwood, Jonathan C and Camu, William and Cascione, Mark and Castelnovo, Giovani and Centonze, Diego and Cerqueira, Joao and Chan, Andrew and Cimprichova, Andrea and Cohan, Stanley and Comi, Giancarlo and Conway, Jill and Cooper, Joanna A and Corboy, John and Correale, Jorge and Costell, Brian and Cottrell, David A and Coyle, Patricia K and Craner, Matthew and Cui, Liying and Cunha, Luis and Czlonkowska, Anna and da Silva, Ana Martins and de Sa, Joao and de Seze, Jérôme and Debouverie, Marc and Debruyne, Jan and Decoo, Danny and Defer, Gilles and Derfuss, Tobias and Deri, Norma H and Dihenia, Bhupesh and Dioszeghy, Peter and Donath, Vladimir and Dubois, Benedicte and Duddy, Martin and Duquette, Pierre and Edan, Gilles and Efendi, Husnu and Elias, Stanton and Emrich, Peter J and Estruch, Bonaventura Casanova and ... and EXPAND Clinical Investigators and Institute of Neuroscience and Physiology and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Institutionen för neurovetenskap och fysiologi
The Lancet, ISSN 0140-6736, 03/2018, Volume 391, Issue 10127, pp. 1263 - 1273
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1305 - 1315
Journal Article