Salt Losses of Men Working in Hot Environments von Weiner, J. S., Heyningen, R. E. van

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Sorbitol pathway—Reminiscences von Van Heyningen, Ruth E.

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa von Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Arno, Gavin, Fiorentino, Alessia, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Cheetham, Michael E., Webster, Andrew R., van Heyningen, Veronica, Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui

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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects von Williamson, Kathleen A., Rainger, Joe, Floyd, James A.B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S., Wilkie, Andrew O.M., FitzPatrick, David R.

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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma von JAMIESON, Robyn V, PERVEEN, Rahat, BLACK, Graeme C. M, KERR, Bronwyn, CARETTE, Martin, YARDLEY, Jill, HEON, Elise, WIRTH, M. Gabriela, VAN HEYNINGEN, Veronica, DONNAI, Di, MUNIER, Francis

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The suprachiasmatic nucleus balances sympathetic and parasympathetic output to peripheral organs through separate preautonomic neurons von Buijs, Ruud M., la Fleur, Susanne E., Wortel, Joke, van Heyningen, Caroline, Zuiddam, Laura, Mettenleiter, Thomas C., Kalsbeek, Andries, Nagai, Katsuya, Niijima, Akira

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GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies von Asai-Coakwell, Mika, French, Curtis R., Berry, Karyn M., Ye, Ming, Koss, Ron, Somerville, Martin, Mueller, Rosemary, van Heyningen, Veronica, Waskiewicz, Andrew J., Lehmann, Ordan J.

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene von Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F., Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M.

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Individual participant data meta analysis to compare EPDS accuracy to detect major depression with and without the self-harm item von Qiu, Xia, Wu, Yin, Sun, Ying, Levis, Brooke, Tian, Jizhou, Boruff, Jill T., Cuijpers, Pim, Ioannidis, John P. A., Markham, Sarah, Ziegelstein, Roy C., Vigod, Simone N., Benedetti, Andrea, Thombs, Brett D., Figueiredo, Bárbara, DEPRESsion Screening Data (DEPRESSD) EPDS Group

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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data von Pontikos, Nikolas, Yu, Jing, Moghul, Ismail, Withington, Lucy, Blanco-Kelly, Fiona, Vulliamy, Tom, Wong, Tsz Lun Ernest, Murphy, Cian, Cipriani, Valentina, Fiorentino, Alessia, Arno, Gavin, Greene, Daniel, Jacobsen, Julius O B, Clark, Tristan, Gregory, David S, Nemeth, Andrea M, Halford, Stephanie, Inglehearn, Chris F, Downes, Susan, Black, Graeme C, Webster, Andrew R, Hardcastle, Alison J, Plagnol, Vincent

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FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality von Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., Black, G.C.M.

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New variants and in silico analyses in GRK1 associated Oguchi disease von Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart P., Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., Rivolta, Carlo, Zeitz, Christina, Mahroo, Omar A., Arno, Gavin, Black, Graeme C. M., McKibbin, Martin, Harris, Sarah A., Khan, Kamron N., Inglehearn, Chris F.

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Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene von Sergouniotis, Panagiotis I, McKibbin, Martin, Robson, Anthony G, Bolz, Hanno J, De Baere, Elfride, Müller, Philipp L, Heller, Raoul, El-Asrag, Mohammed E, Van Schil, Kristof, Plagnol, Vincent, Toomes, Carmel, Ali, Manir, Holder, Graham E, Charbel Issa, Peter, Leroy, Bart P, Inglehearn, Chris F, Webster, Andrew R

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Pheno4J: a gene to phenotype graph database von Mughal, Sajid, Moghul, Ismail, Yu, Jing, Clark, Tristan, Gregory, David S, Pontikos, Nikolas

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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration von Arno, Gavin, Zihni, Ceniz, Robson, Anthony G., Fiorentino, Alessia, Black, Graeme, Ponitkos, Nikos, Holder, Graham E., Aitman, Timothy, Alachkar, Hana, Allsup, David, Anderson, Julie, Armstrong, Ruth, Arumugakani, Gururaj, Ashford, Sofie, Bakchoul, Tamam, Bariana, Tadbir K., Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bolton-Maggs, Paula, Brady, Angie, Brown, Matthew, Caulfield, Mark, Chitre, Manali, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Egner, William, Erwood, Marie, Favier, Remi, Flinter, Frances, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gattens, Michael, Ghataorhe, Pavandeep K., Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gordins, Pavel, Greinacher, Andreas, Grigoriadou, Sofia, Hayman, Grant, Henderson, Robert, Henskens, Yvonne, Holden, Simon, Hu, Fengyuan, Jolles, Stephen, Josifova, Dragana, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Linger, Rachel, Machado, Rajiv, Manson, Ania, Markus, Hugh S., Meehan, Sharon, Ouwehand, Willem H., Park, Soo-Mi, Parker, Alasdair, Paterson, Joan, Peerlinck, Kathelijne, Perry, David J., Qasim, Waseem, Rankin, Julia, Rehnstrom, Karola, Roberts, Irene, Roughley, Catherine, Rue-Albrecht, Kevin, Schulze, Harald, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Stephens, Jonathan, Suntharalingam, Jay, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Titterton, Catherine, Toh, Cheng-Hock, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Wakeling, Emma, Warner, Timothy Q., Webster, Andrew, Wilkins, Martin, Young, Tim, Yu, Ping, Webster, Andrew R.

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Mouse Small eye results from mutations in a paired-like homeobox-containing gene von Hill, Robert E., Favor, Jack, Hogan, Brigid L. M., Ton, Carl C. T., Saunders, Grady F., Hanson, Isabel M., Prosser, Jane, Jordan, Tim, Hastie, Nicholas D., Heyningen, Veronica van

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Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes von Asai-Coakwell, Mika, French, Curtis R., Ye, Ming, Garcha, Kamal, Bigot, Karin, Perera, Anoja G., Staehling-Hampton, Karen, Mema, Silvina C., Chanda, Bhaskar, Mushegian, Arcady, Bamforth, Steven, Doschak, Michael R., Li, Guang, Dobbs, Matthew B., Giampietro, Philip F., Brooks, Brian P., Vijayalakshmi, Perumalsamy, Sauvé, Yves, Abitbol, Marc, Sundaresan, Periasamy, van Heyningen, Veronica, Pourquié, Olivier, Underhill, T. Michael, Waskiewicz, Andrew J., Lehmann, Ordan J.

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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction von Henderson, Robert H, Williamson, Kathleen A, Kennedy, Joanna S, Webster, Andrew R, Holder, Graham E, Robson, Anthony G, FitzPatrick, David R, van Heyningen, Veronica, Moore, Anthony T

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Multiple roles for the Wilms' tumor suppressor, WT1 von Davies, R, Moore, A, Schedl, A, Bratt, E, Miyahawa, K, Ladomery, M, Miles, C, Menke, A, van Heyningen, V, Hastie, N

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Deficient auditory interhemispheric transfer in patients with PAX6 mutations von Bamiou, Doris-Eva, Musiek, Frank E., Sisodiya, Sanjay M., Free, Samantha L., Davies, Rosalyn A., Moore, Anthony, van Heyningen, Veronica, Luxon, Linda M.

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