G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex von Piao, Xianhua, Hill, R. Sean, Bodell, Adria, Chang, Bernard S., Basel-Vanagaite, Lina, Straussberg, Rachel, Dobyns, William B., Qasrawi, Bassam, Winter, Robin M., Innes, A. Micheil, Voit, Thomas, Ross, M. Elizabeth, Michaud, Jacques L., Déscarie, Jean-Claude, Barkovich, A. James, Walsh, Christopher A.

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3D analysis of facial morphology von Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Campbell, Linda E., Hennekam, Raoul C.M., Holden, Sean, Patton, Michael A., Shaw, Adam, Temple, I. Karen, Trotter, Matthew, Murphy, Kieran C., Winter, Robin M.

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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome von Muenke, Maximilian, Schell, Ute, Hehr, Andreas, Robin, Nathaniel H, Losken, H. Wolfgang, Schinzel, Albert, Pulleyn, Louise J, Rutland, Paul, Reardon, William, Malcolm, Sue, Winter, Robin M

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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome von Reardon, William, Winter, Robin M, Rutland, Paul, Pulleyn, Louise J, Jones, Barry M, Malcolm, Sue

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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 von Villard, Laurent, Nguyen, Karine, Cardoso, Carlos, Martin, Christa Lese, Weiss, Ann M., Sifry-Platt, Mara, Grix, Arthur W., Graham, John M., Winter, Robin M., Leventer, Richard J., Dobyns, William B.

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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis von Superti-Furga, Andrea, Shears, Deborah J, Reardon, William, Palmer, Rodger W, Vassal, Humberto J, Scambler, Peter J, Winter, Robin M, Goodman, Frances R

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation von Flint, Jonathan, Wilkie, Andrew O.M, Buckle, Veronica J, Winter, Robin M, Holland, Anthony J, McDermid, Heather E

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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes von Rutland, Paul, Pulleyn, Louise J, Reardon, William, Baraitser, Michael, Hayward, Richard, Jones, Barry, Malcolm, Sue, Winter, Robin M, Oldridge, Michael, Slaney, Sarah F, Poole, Michael D, Wilkie, Andrew O.M

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Okihiro syndrome is caused by SALL4 mutations von Kohlhase, Jürgen, Heinrich, Marielle, Schubert, Lucia, Liebers, Manuela, Kispert, Andreas, Laccone, Franco, Turnpenny, Peter, Winter, Robin M., Reardon, William

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Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases von Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, Peltonen, Leena, Kestilä, Marjo

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Subtle chromosomal rearrangements in children with unexplained mental retardation von Knight, Samantha JL, Regan, Regina, Nicod, Alison, Horsley, Sharon W, Kearney, Lyndal, Homfray, Tessa, Winter, Robin M, Bolton, Patrick, Flint, Jonathan

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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein von Scambler, Peter J, McGregor, Lesley, Makela, Ville, Darling, Susan M, Vrontou, Sofia, Chalepakis, Georges, Roberts, Catherine, Smart, Nicola, Rutland, Paul, Prescott, Natalie, Hopkins, Jason, Bentley, Elizabeth, Shaw, Alison, Roberts, Emma, Mueller, Robert, Jadeja, Shalini, Philip, Nicole, Nelson, John, Francannet, Christine, Perez-Aytes, Antonio, Megarbane, Andre, Kerr, Bronwyn, Wainwright, Brandon, Woolf, Adrian S, Winter, Robin M

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Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes von Zhou, Xiao-Ping, Hampel, Heather, Thiele, Hannelore, Gorlin, Robert J, Hennekam, Raoul CM, Parisi, Melissa, Winter, Robin M, Eng, Charis

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Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature? von Holder-Espinasse, Muriel, Winter, Robin M

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Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 von Chang, Bernard S., Piao, Xianhua, Bodell, Adria, Basel-Vanagaite, Lina, Straussberg, Rachel, Dobyns, William B., Qasrawi, Bassam, Winter, Robin M., Innes, A. Micheil, Voit, Thomas, Grant, P. Ellen, Barkovich, A. James, Walsh, Christopher A.

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome von Wilkie, Andrew O.M, Slaney, Sarah F, Oldridge, Michael, Poole, Michael D, Ashworth, Geraldine J, Hockley, Anthony D, Hayward, Richard D, David, David J, Pulleyn, Louise J, Rutland, Paul, Malcolm, Susan, Winter, Robin M, Reardon, William

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A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation von Plenge, Robert M, Hendrich, Brian D, Schwartz, Charles, Arena, J. Fernando, Naumova, Anna, Sapienza, Carmen, Winter, Robin M, Willard, Huntington F

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Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy von VIPRAKASIT, Vip, GIBBONS, Richard J, LEHMANN, Alan R, HIGGS, Douglas R, BROUGHTON, Bernard C, TOLMIE, John L, BROWN, Donald, LUNT, Peter, WINTER, Robin M, MARINONI, Stefano, STEFANINI, Miria, BRUETON, Louise

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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? von Reardon, William, Smith, Anne, Honour, John W, Hindmarsh, Peter, Das, Debipriya, Rumsby, Gill, Nelson, Isabelle, Malcolm, Sue, Adès, Lesley, Sillence, David, Kumar, Dhavendra, DeLozier-Blanchet, Celia, McKee, Shane, Kelly, Thaddeus, McKeehan, Wallace L, Baraitser, Michael, Winter, Robin M

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What's in a face? von Winter, Robin M

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