Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome von Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.

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Identification of SATB2 as the cleft palate gene on 2q32–q33 von FitzPatrick, David R., Carr, Ian M., McLaren, Lorna, Leek, Jack P., Wightman, Patrick, Williamson, Kathy, Gautier, Philippe, McGill, Niolette, Hayward, Caroline, Firth, Helen, Markham, Alex F., Fantes, Judy A., Bonthron, David T.

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The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin von Martin, Christa Lese, Wong, Andrew, Gross, Alyssa, Chung, June, Fantes, Judy A., Ledbetter, David H.

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Large Genomic Duplicons Map to Sites of Instability in the Prader-Willi/Angelman Syndrome Chromosome Region (15q11–q13) von Christian, Susan L., Fantes, Judy A., Mewborn, Stephanie K., Huang, Bing, Ledbetter, David H.

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence von Vazquez, Marie-Paule, Fantes, Judy A, Vekemans, Michel, Holder-Espinasse, Muriel, Gordon, Christopher T, Kilpatrick, Nicky, Perry, Paul, Heaney, Simon, Thomas, Sophie, Ayuso, Carmen, Ramsay, Jacqueline, Lees, Melissa M, Crollius, Hugues Roest, Farlie, Peter G, Abadie, Véronique, Temple, I Karen, Lyonnet, Stanislas, Amiel, Jeanne, Fisher, Malcolm, Thomas, Paul, Kleinjan, Dirk-Jan, Etchevers, Heather C, Benko, Sabina, Jamshidi, Negar, Munnich, Arnold, Pelet, Anna, Essafi, Abdelkader, McBride, David, FitzPatrick, David R, Golzio, Christelle, Picard, Arnaud, Hastie, Nicholas D

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Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome von Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.

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Characterization of physical gap sizes at human telomeres von Lese, C M, Fantes, J A, Riethman, H C, Ledbetter, D H

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The Human Serum Amyloid A Protein (SAA) Superfamily Gene Cluster: Mapping to Chromosome 11p15.1 by Physical and Genetic Linkage Analysis von Sellar, Grant C., Jordan, Siobhán A., Bickmore, Wendy A., Fantes, Judy A., van Heyningen, Veronica, Whitehead, Alexander S.

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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 von Ungaro, Paola, Christian, Susan L, Fantes, Judy A, Mutirangura, Apiwat, Black, Susan, Reynolds, James, Malcolm, Sue, Dobyns, William B, Ledbetter, David H

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A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1 von Fantes, Judy A., Oghene, Kathy, Boyle, Shelagh, Danes, Sarah, Fletcher, Judy M., Bruford, Elspeth A., Williamson, Kathy, Seawright, Anne, Schedl, Andreas, Hanson, Isabel, Zehetner, Günther, Bhogal, Ranjit, Lehrach, Hans, Gregory, Simon, Williams, Jon, Little, Peter F.R., Sellar, Grant C., Hoovers, Jan, Mannens, Marcel, Weissenbach, Jean, Junien, Claudine, van Heyningen, Veronica, Bickmore, Wendy A.

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Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation von Matsumoto, N, Pilz, D T, Fantes, J A, Kittikamron, K, Ledbetter, D H

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Molecular Analysis of Chromosome 11 Deletions in Aniridia-Wilms Tumor Syndrome von Van Heyningen, Veronica, Boyd, Patricia A., Seawright, Anne, Fletcher, Judy M., Fantes, Judy A., Buckton, Karen E., Spowart, George, Porteous, David J., Hill, Robert E., Newton, Marjorie S., Hastie, Nicholas D.

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The results of colchicine treatment of dihaploids and their implications regarding efficiency of chromosome doubling and potato histogeny von DE, M. J, FANTES, M, FANTES, J. A

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Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids von SEAWRIGHT, A, FLETCHER, J. M, FANTES, J. A, MORRISON, H, PORTEOUS, D. J, LI, S. S.-L, HASTIE, N. D, VAN HEYNINGEN, V

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Molecular and Physical Arrangements of Human DNA in HRAS1-Selected, Chromosome-Mediated Transfectants von Porteous, David J., Morten, John E. N., Cranston, Gwen, Fletcher, Judy M., Mitchell, Arthur, van Heyningen, Veronica, Fantes, Judy A., Boyd, Patricia A., Hastie, Nicholas D.

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Enhancer-adoption as a mechanism of human developmental disease von Lettice, Laura A., Daniels, Sarah, Sweeney, Elizabeth, Venkataraman, Shanmugasundaram, Devenney, Paul S., Gautier, Philippe, Morrison, Harris, Fantes, Judy, Hill, Robert E., FitzPatrick, David R.

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Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy von Clapp, Jannine, Mitchell, Laura M., Bolland, Daniel J., Fantes, Judy, Corcoran, Anne E., Scotting, Paul J., Armour, John A.L., Hewitt, Jane E.

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Mutations in SOX2 cause anophthalmia von FitzPatrick, David R, Fantes, Judy, Ragge, Nicola K, Lynch, Sally-Ann, McGill, Niolette I, Collin, J. Richard O, Howard-Peebles, Patricia N, Hayward, Caroline, Vivian, Anthony J, Williamson, Kathy, van Heyningen, Veronica

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Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations von Harewood, Louise, Liu, Monica, Keeling, Jean, Howatson, Alan, Whiteford, Margo, Branney, Peter, Evans, Margaret, Fantes, Judy, Fitzpatrick, David R

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Bilateral Renal Agenesis/Hypoplasia/Dysplasia von Harewood, Louise, Liu, Monica, Keeling, Jean, Howatson, Alan, Whiteford, Margo, Branney, Peter, Evans, Margaret, Fantes, Judy, FitzPatrick, David R

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