Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome von Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R.A., De Paepe, A., De Baere, E.

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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene von Davis, M.R, Haan, E, Jungbluth, H, Sewry, C, North, K, Muntoni, F, Kuntzer, T, Lamont, P, Bankier, A, Tomlinson, P, Sánchez, A, Walsh, P, Nagarajan, L, Oley, C, Colley, A, Gedeon, A, Quinlivan, R, Dixon, J, James, D, Müller, C.R, Laing, N.G

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Brachydactyly and mental retardation : an albright hereditary osteodystrophy-like syndrome localized to 2q37 von WILSON, L. C, LEVERTON, K, TREMBATH, R. C, OUDE LUTTIKHUIS, M. E. M, OLEY, C. A, FLINT, J, WOLSTENHOLME, J, DUCKETT, D. P, BARROW, M. A, LEONARD, J. V, READ, A. P

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Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies von Lim, Derek, Bowdin, Sarah C., Tee, Louise, Kirby, Gail A., Blair, Edward, Fryer, Alan, Lam, Wayne, Oley, Christine, Cole, Trevor, Brueton, Louise A., Reik, Wolf, Macdonald, Fiona, Maher, Eamonn R.

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome von Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation von De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine

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A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus von Crolla, J A, Cawdery, J E, Oley, C A, Young, I D, Gray, J, Fantes, J, van Heyningen, V

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The Rising Incidence of Terminal 11Q Deletion? von Lall, R K, Brent, J, Oley, C, Ahmed, M

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A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy von Parker, William Davis, Oley, Christine A, Parks, Janice K

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Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases von HARGRAVE, M, JAMES, K, KWON, J. M, KREMER, H, DIXON, M. J, TIMMERMAN, V, YAMADA, T, KOOPMAN, P, NIELD, K, TOOMES, C, GEORGAS, K, SULLIVAN, T, VERZIJL, H. T. F. M, OLEY, C. A, LITTLE, M, DE JONGHE, P

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Evidence for Locus Heterogeneity in Autosomal Dominant Torsion Dystonia von Ahmad, F., Davis, M.B., Waddy, H.M., Oley, C.A., Marsden, C.D., Harding, A.E.

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Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) von Oley, C, Baraitser, M

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Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity von CHENEVIX-TRENCH, G, WICKING, C, SEARLE, J, WAINWRIGHT, B, BERKMAN, J, SHARPE, H, HOCKEY, A, HAAN, E, OLEY, C, RAVINE, D, TURNER, A, GOLDGAR, D

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Lacrimal outflow dysgenesis von Yuen, Sonia J.Ahn, Oley, Christine, Sullivan, Timothy J.

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Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region von THOMAS, N. S, BROWNE, C. E, OLEY, C, HEALEY, S, CROLLA, J. A

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Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII von NICHOLLS, A C, SHER, J L, WRIGHT, M J, OLEY, C, MUELLER, R F, POPE, F M

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A reappraisal of the CHARGE association von Oley, C A, Baraitser, M, Grant, D B

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Hyperbaric Oxygen Therapy in Managing Minimally Invasive Aesthetic Procedure Complications: A Report of Three Cases von Oley, Mendy Hatibie, Oley, Maximillian Christian, Mawu, Ferra Olivia, Aling, Deanette Michelle R, Faruk, Muhammad

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FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13) von Crolla, J A, Cross, I, Atkey, N, Wright, M, Oley, C A

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Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion von Montgomery, T L, Wyllie, J, Oley, C

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