Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans von Burgess, Rosemary, Millar, Ian D., Leroy, Bart P., Urquhart, Jill E., Fearon, Ian M., De Baere, Elfrida, Brown, Peter D., Robson, Anthony G., Wright, Genevieve A., Kestelyn, Philippe, Holder, Graham E., Webster, Andrew R., Manson, Forbes D.C., Black, Graeme C.M.

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance von BURKITT WRIGHT, Emma M. M, SPENCER, Helen L, MADDEN, Colm, DODDS, Annabel, CHANDLER, Kate E, BANKA, Siddharth, AU, Leon, CLAYTON-SMITH, Jill, KHAN, Naz, BIESECKER, Leslie G, WILSON, Meredith, ROHRBACH, Marianne, DALY, Sarah B, COLOMBI, Marina, GIUNTA, Cecilia, BLACK, Graeme C. M, MANSON, Forbes D. C, ZEEF, Leo A. H, URQUHART, Jill, ZOPPI, Nicoletta, BONSHEK, Richard, TOSOUNIDIS, Ioannis, MOHAN, Meyyammai

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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum von Boland, Elena, Clayton-Smith, Jill, Woo, Victoria G., McKee, Shane, Manson, Forbes D.C., Medne, Livija, Zackai, Elaine, Swanson, Eric A., Fitzpatrick, David, Millen, Kathleen J., Sherr, Elliott H., Dobyns, William B., Black, Graeme C.M.

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Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) von Yardley, Jill, Leroy, Bart P, Hart-Holden, Niki, Lafaut, Bart A, Loeys, Bart, Messiaen, Ludwine M, Perveen, Rahat, Reddy, M. Ashwin, Bhattacharya, Shomi S, Traboulsi, Elias, Baralle, Diana, De Laey, Jean-Jacques, Puech, Bernard, Kestelyn, Philippe, Moore, Anthony T, Manson, Forbes D. C, Black, Graeme C. M

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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin von Shu, X., Fry, A.M., Tulloch, B., Manson, F.D.C., Crabb, J.W., Khanna, H., Faragher, A.J., Lennon, A., He, S., Trojan, P., Giessl, A., Wolfrum, U., Vervoort, R., Swaroop, A., Wright, A.F.

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A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1 von Davidson, Alice E, Sergouniotis, Panagiotis I, Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J, Manson, Forbes D C, Black, Graeme C M, Webster, Andrew R

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Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination von Hilton, Emma N., Manson, Forbes D.C., Urquhart, Jill E., Johnston, Jennifer J., Slavotinek, Anne M., Hedera, Peter, Stattin, Eva-Lena, Nordgren, Ann, Biesecker, Leslie G., Black, Graeme C.M.

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Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen von Kolehmainen, Juha, Wilkinson, Robert, Lehesjoki, Anna-Elina, Chandler, Kate, Kivitie-Kallio, Satu, Clayton-Smith, Jill, Träskelin, Ann-Liz, Waris, Laura, Saarinen, Anne, Khan, Jabbar, Gross-Tsur, Varda, Traboulsi, Elias I., Warburg, Mette, Fryns, Jean-Pierre, Norio, Reijo, C. M. Black, Graeme, D. C. Manson, Forbes

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Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome von Michaelides, Michel, Urquhart, Jill, Holder, Graham E., Restori, Marie, Kayali, Nuha, Manson, Forbes D.C., Black, Graeme C.M.

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Developmental and Tissue Expression of Xenopus laevis RPGR von Shu, Xinhua, Zeng, Zhihong, Eckmiller, Marion S, Gautier, Phillipe, Vlachantoni, Dafni, Manson, Forbes D. C, Tulloch, Brian, Sharpe, Colin, Gorecki, Dariusz C, Wright, Alan F

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Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? von Khan, A, Chandler, K, Pimenides, D, Black, G C M, Manson, F D C

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Inherited eye disease: cause and late effect von Manson, Forbes D.C., Trump, Dorothy, Read, Andrew P., Black, Graeme C.M.

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Sequence of the gene encoding flavocytochrome c from Shewanella putrefaciens: a tetraheme flavoenzyme that is a soluble fumarate reductase related to the membrane-bound enzymes fro... von Pealing, Sara L, Black, Ann C, Manson, Forbes D. C, Ward, F. Bruce, Chapman, Stephen K, Reid, Graeme A

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Purification and properties of a novel cytochrome: flavocytochrome c from Shewanella putrefaciens von Morris, C J, Black, A C, Pealing, S L, Manson, F D, Chapman, S K, Reid, G A, Gibson, D M, Ward, F B

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The importance of the interdomain hinge in intramolecular electron transfer in flavocytochrome b2 von WHITE, P, MANSON, F. D. C, BRUNT, C. E, CHAPMAN, S. K, REID, G. A

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Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3) von Dry, Katherine L., Aldred, Micheala A., Edgar, Alexander J., Brown, John, Manson, Forbes D.C., Ho, Meng-Fatt, Prosser, Jane, Hardwick, Lee J., Lennon, Alan A., Thomson, Kate, Van Keuren, Margaret, Kurnit, David M., Bird, Alan C., Jay, Marcelle, Monaco, Anthony P., Wright, Alan F.

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Interaction of cytochrome c with flavocytochrome b sub(2) von Daff, S, Sharp, R E, Short, D M, Bell, C, White, P, Manson, FDC, Reid, G A, Chapman, S K

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On the lack of coordination between protein folding and flavin insertion in Escherichia coli for flavocytochrome b 2 mutant forms Y254L and D282N von Gondry, Muriel, Diêp Lê, K.H., Lederer, Florence, Manson, Forbes D.C., Reid, Graeme A., Chapman, Stephen K., Scott Mathews, F.

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Localization of chitinolytic enzymes in blood of turbot, Scophthalmus maximus , and possible roles in defence von Manson, FDC, Fletcher, T C, Gooday, G W

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Localization of chitinolytic enzymes in blood of turbot, Scophthalmus maximus, and their possible roles in defence von Manson, F. D. C., Fletcher, T. C., Gooday, G. W.

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