Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 von Brice, G, Mansour, S, Bell, R, Collin, J R O, Child, A H, Brady, A F, Sarfarazi, M, Burnand, K G, Jeffery, S, Mortimer, P, Murday, V A

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome von Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M.C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E.S, Tolmie, J.L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Brueton, L, Sanchez del Pozo, J, Muñoz, E, Gennery, A.R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J.M, Lehmann, A.R, Sarasin, A, Dollfus, H

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 von Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M

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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome von Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development von Simpson, M.A., Hsu, R., Keir, L.S., Hao, J., Sivapalan, G., Ernst, L.M., Zackai, E.H., Al-Gazali, L.I., Hulskamp, G., Kingston, H.M., Prescott, T.E., Ion, A., Patton, M.A., Murday, V., George, A., Crosby, A.H.

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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene von BELL, R, BRICE, G, MORTIMER, P, JEFFERY, S, CHILD, A. H, MURDAY, V. A, MANSOUR, S, SANDY, C. J, COLLIN, J. R. O, BRADY, A. F, CALLEN, D. F, BURNAND, K

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Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information von Hallowell, N, Foster, C, Eeles, R, Ardern-Jones, A, Murday, V, Watson, M

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Localization of the gene for Cowden disease to chromosome 10q22-23 von Nelen, M.R, Padberg, G.W, Peeters, E.A.J, Lin, A.Y, Helm, B. van den, Frants, R.R, Goulon, V, Goldstein, A.M, Reen, M.M.M van, Eastern, D.F, Eeles, R.A, Hodgson, S, Mulvihill, J.J, Murday, V.A, Tucker, M.A, Mariman, E.C.M, Starink, T.M, Ponder, B.A.J, Ropers, H.H, Kremer, H, Longy, M, Eng, C

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The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer von WATSON, M, LLOYD, S, DAVIDSON, J, MEYER, L, EELES, R, EBBS, S, MURDAY, V

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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (naxos disease) maps to 17q21 von COONAR, A. S, PROTONOTARIOS, N, TSATSOPOULOU, A, NEEDHAM, E. W. A, HOULSTON, R. S, CLIFF, S, OTTER, M. I, MURDAY, V. A, MATTU, R. K, MCKENNA, W. J

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Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome von Lim, W, Hearle, N, Shah, B, Murday, V, Hodgson, S V, Lucassen, A, Eccles, D, Talbot, I, Neale, K, Lim, A G, O'Donohue, J, Donaldson, A, Macdonald, R C, Young, I D, Robinson, M H, Lee, P W R, Stoodley, B J, Tomlinson, I, Alderson, D, Holbrook, A G, Vyas, S, Swarbrick, E T, Lewis, A A M, Phillips, R K S, Houlston, R S

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An Ancestral Ashkenazi Haplotype at the HMPS/CRAC1 Locus on 15q13–q14 Is Associated with Hereditary Mixed Polyposis Syndrome von Jaeger, E.E.M., Woodford-Richens, K.L., Lockett, M., Rowan, A.J., Sawyer, E.J., Heinimann, K., Rozen, P., Murday, V.A., Whitelaw, S.C., Ginsberg, A., Atkin, W.S., Lynch, H.T., Southey, M.C., Debinski, H., Eng, C., Bodmer, W.F., Talbot, I.C., Hodgson, S.V., Thomas, H.J.W., Tomlinson, I.P.M.

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CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis von Connell, FC, Kalidas, K, Ostergaard, P, Brice, G, Murday, V, Mortimer, PS, Jeffrey, I, Jeffery, S, Mansour, Sahar

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Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial von Burn, John, Prof Sir, Gerdes, Anne-Marie, Prof, Macrae, Finlay, Prof, Mecklin, Jukka-Pekka, Prof, Moeslein, Gabriela, MD, Olschwang, Sylviane, MD, Eccles, Diane, Prof, Evans, D Gareth, Prof, Maher, Eamonn R, Prof, Bertario, Lucio, MD, Bisgaard, Marie-Luise, MD, Dunlop, Malcolm G, Prof, Ho, Judy WC, MD, Hodgson, Shirley V, Prof, Lindblom, Annika, Prof, Lubinski, Jan, Prof, Morrison, Patrick J, Prof, Murday, Victoria, MD, Ramesar, Raj, Prof, Side, Lucy, MD, Scott, Rodney J, Prof, Thomas, Huw JW, Prof, Vasen, Hans F, Prof, Barker, Gail, Crawford, Gillian, Elliott, Faye, Movahedi, Mohammad, PhD, Pylvanainen, Kirsi, Wijnen, Juul T, PhD, Fodde, Riccardo, Prof, Lynch, Henry T, Prof, Mathers, John C, Prof, Bishop, D Timothy, Prof

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Germline PTEN mutations in Cowden syndrome-like families von Marsh, D J, Dahia, P L, Caron, S, Kum, J B, Frayling, I M, Tomlinson, I P, Hughes, K S, Eeles, R A, Hodgson, S V, Murday, V A, Houlston, R, Eng, C

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Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome von Hearle, N C M, Rudd, M F, Lim, W, Murday, V, Lim, A G, Phillips, R K, Lee, P W, O’Donohue, J, Morrison, P J, Norman, A, Hodgson, S V, Lucassen, A, Houlston, R S

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Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins von Johnson, D, Morrison, N, Grant, L, Turner, T, Fantes, J, Connor, J M, Murday, V

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Clinical and molecular features of the hereditary mixed polyposis syndrome von Whitelaw, SC, Murday, VA, Tomlinson, IP, Thomas, HJ, Cottrell, S, Ginsberg, A, Bukofzer, S, Hodgson, SV, Skudowitz, RB, Jass, JR, Talbot, IC, Northover, JM, Bodmer, WF, Solomon, E

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Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study von Movahedi, Mohammad, Bishop, D Timothy, Macrae, Finlay, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Olschwang, Sylviane, Eccles, Diana, Evans, D Gareth, Maher, Eamonn R, Bertario, Lucio, Bisgaard, Marie-Luise, Dunlop, Malcolm G, Ho, Judy W C, Hodgson, Shirley V, Lindblom, Annika, Lubinski, Jan, Morrison, Patrick J, Murday, Victoria, Ramesar, Raj S, Side, Lucy, Scott, Rodney J, Thomas, Huw J W, Vasen, Hans F, Burn, John, Mathers, John C

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The mutational spectrum in Waardenburg syndrome von Tassabehji, Mayada, Newton, Valerie E., Liu, Xue-Zhong, Brady, Angela, Donnai, Dian, Krajewska-Walasek, Malgorzata, Murday, Victoria, Norman, Andrew, Obersztyn, Ewa, Reardon, William, Rice, John C., Trembath, Richard, Wieacker, Peter, Whiteford, Margo, Winter, Robin, Read, Andrew P.

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