Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification von Bunyan, D J, Eccles, D M, Sillibourne, J, Wilkins, E, Thomas, N Simon, Shea-Simonds, J, Duncan, P J, Curtis, C E, Robinson, D O, Harvey, J F, Cross, N C P

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SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions von Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel-Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K

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An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing von Sandell, S, Schuit, R J L, Bunyan, D J

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Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus von MACKAY, D. J. G, HAHNEMANN, J. M. D, CLAYTON-SMITH, J, TEMPLE, I. K, BOONEN, S. E, POERKSEN, S, BUNYAN, D. J, WHITE, H. E, DURSTON, V. J, THOMAS, N. S, ROBINSON, D. O, SHIELD, J. P. H

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PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY von TERRACCIANO, A, FOULDS, N. C, DITCHFIELD, A, BUNYAN, D. J, CROLLA, J. A, HUANG, S, SANTORELLI, F. M, HAMMANS, S. R

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Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy von Turner, C.L.S., Emery, H., Collins, A.L., Howarth, R.J., Yearwood, C.M., Cross, E., Duncan, P.J., Bunyan, D.J., Harvey, J.F., Foulds, N.C.

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Large-scale discovery of novel genetic causes of developmental disorders von van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

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Minisatellite instability is found in colorectal tumours with mismatch repair deficiency von Coleman, M G, Gough, A C, Bunyan, D J, Braham, D, Eccles, D M, Primrose, J N

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Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay von Balasubramanian, M., Shield, J.P.H., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J.G., Temple, I.K.

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No evidence for amplification of V617F JAK2 in myeloproliferative disorders von Jones, A V, Bunyan, D J, Cross, N C P

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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects von Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivier, Fritz, Ann-Kristina, Wolfer, David P, Schröter, Aileen, Bosshard, Giovanna, Rudin, Markus, Koester, Christina, Crestani, Florence, Seebeck, Petra, Boddaert, Nathalie, Prescott, Katrina, Hines, Rochelle, Moss, Steven J, Fritschy, Jean-Marc, Munnich, Arnold, Amiel, Jeanne, Brown, Steven A, Tyagarajan, Shiva K, Colleaux, Laurence

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Cytogenetically cryptic AML1–ETO and CBFβ–MYH11 gene rearrangements: incidence in 412 cases of acute myeloid leukaemia von Rowe, D., Cotterill, S. J., Ross, F. M., Bunyan, D. J., Vickers, S. J., Bryon, J., McMullan, D. J., Griffiths, M. J., Reilly, J. T., Vandenberghe, E. A., Wilson, G., Watmore, A. E., Bown, N. P.

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Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis von Bunyan, D J, Shea-Simonds, J, Reck, A C, Finnis, D, Eccles, D M

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data von Aitken, Stuart, McRae, Jeremy, Kini, Usha, Parker, Michael J., Joss, Shelagh, Scott, Richard H., Hurles, Matthew E., FitzPatrick, David R., Morley, K.I., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Krishnappa, N., Mason, L.E., Middleton, A., Prigmore, E., Tivey, A.R., Akawi, N., Andrews, R., Armstrong, R., Balasubramanian, M., Banerjee, R., Baty, D., Bernhard, B., Blair, E., Bourn, D., Brady, A., Brewer, C., Burn, J., Connell, F., Cooper, N., Cross, G., Dixit, A., Ellis, P., Fendick, T., Fisher, R., Greenhalgh, L., Hawkins, R., Hobson, E., Holden, S., Holder, S., Hurst, J., Ingram, S., Jarvis, J., Johnson, D., Joss, S., Kaemba, B., Kirby, G., Kraus, A., Kumar, D., Lim, D., Lowther, G., Marks, K., Maye, U., McConnell, V., McGowan, R., McMullan, D.J., Metcalfe, K., Mohammed, S., Nevitt, L., Newbury-Ecob, R., Ogilvie, C., Paterson, J., Payne, S., Porteous, D., Raymond, L., Roberts, E., Roberts, G., Roberts, P., Ross, A., Saggar, A., Sandford, R., Schweiger, S., Scott, C., Selby, A., Seller, A., Shears, D., Singzon, R., Smith, B., Sneddon, L., Stewart, F., Stewart, H., Suri, M., Swaminathan, G.J., Sweeney, E., Tolmie, J., Turner, C., Tysoe, C., Vasudevan, P., Vogt, J., Waters, J., Wellesley, D., Widaa, S., Wilcox, S., Williams, N., Yang, F., Wright, C.F., Barrett, J.C., Hurles, M.E.

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum von Girirajan, Santhosh, Vlangos, Christopher N, Szomju, Barbara B, Edelman, Emily, Trevors, Christopher D, Dupuis, Lucie, Nezarati, Marjan, Bunyan, David J, Elsea, Sarah H

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease von Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G, Pengelly, Reuben J, Gale, Daniel P, Connor, Thomas M, Bunyan, David J, Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G

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Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy von BUNYAN, D. J, ROBINSON, D. O, COLLINS, A. L, COCKWELL, A. E, BULLMAN, H. M. S, WHITTAKER, P. A

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A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis von ROBINSON, D. O, BUNYAN, D. J, GABB, H. A, TEMPLE, I. K, YAU, S. C

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Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions von BUNYAN, D. J, CROLLA, J. A, COLLINS, A. L, ROBINSON, D. O

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Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways von Bakrania, Preeti, Efthymiou, Maria, Klein, Johannes C., Salt, Alison, Bunyan, David J., Wyatt, Alex, Ponting, Chris P., Martin, Angela, Williams, Steven, Lindley, Victoria, Gilmore, Joanne, Restori, Marie, Robson, Anthony G., Neveu, Magella M., Holder, Graham E., Collin, J Richard O., Robinson, David O., Farndon, Peter, Johansen-Berg, Heidi, Gerrelli, Dianne, Ragge, Nicola K.

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