G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex
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.
Published in Science (American Association for the Advancement of Science) (26.03.2004)
Published in Science (American Association for the Advancement of Science) (26.03.2004)
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Journal Article
3D analysis of facial morphology
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.
Published in American journal of medical genetics. Part A (01.05.2004)
Published in American journal of medical genetics. Part A (01.05.2004)
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Journal Article
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
Reardon, William, Winter, Robin M, Rutland, Paul, Pulleyn, Louise J, Jones, Barry M, Malcolm, Sue
Published in Nature genetics (01.09.1994)
Published in Nature genetics (01.09.1994)
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Journal Article
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
Superti-Furga, Andrea, Shears, Deborah J, Reardon, William, Palmer, Rodger W, Vassal, Humberto J, Scambler, Peter J, Winter, Robin M, Goodman, Frances R
Published in Nature genetics (01.05.1998)
Published in Nature genetics (01.05.1998)
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Journal Article
A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
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.
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
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Journal Article
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
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
Published in Nature genetics (01.11.1994)
Published in Nature genetics (01.11.1994)
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Journal Article
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
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
Published in Nature genetics (01.02.1995)
Published in Nature genetics (01.02.1995)
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Journal Article
Okihiro syndrome is caused by SALL4 mutations
Kohlhase, Jürgen, Heinrich, Marielle, Schubert, Lucia, Liebers, Manuela, Kispert, Andreas, Laccone, Franco, Turnpenny, Peter, Winter, Robin M., Reardon, William
Published in Human molecular genetics (01.11.2002)
Published in Human molecular genetics (01.11.2002)
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Journal Article
Subtle chromosomal rearrangements in children with unexplained mental retardation
Knight, Samantha JL, Regan, Regina, Nicod, Alison, Horsley, Sharon W, Kearney, Lyndal, Homfray, Tessa, Winter, Robin M, Bolton, Patrick, Flint, Jonathan
Published in The Lancet (British edition) (13.11.1999)
Published in The Lancet (British edition) (13.11.1999)
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Journal Article
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
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
Published in Nature genetics (01.06.2003)
Published in Nature genetics (01.06.2003)
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Journal Article
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, Peltonen, Leena, Kestilä, Marjo
Published in Human molecular genetics (01.11.2003)
Published in Human molecular genetics (01.11.2003)
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Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
Zhou, Xiao-Ping, Hampel, Heather, Thiele, Hannelore, Gorlin, Robert J, Hennekam, Raoul CM, Parisi, Melissa, Winter, Robin M, Eng, Charis
Published in The Lancet (British edition) (21.07.2001)
Published in The Lancet (British edition) (21.07.2001)
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Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16
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.
Published in Annals of neurology (01.05.2003)
Published in Annals of neurology (01.05.2003)
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Journal Article
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
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
Published in Nature genetics (01.02.1995)
Published in Nature genetics (01.02.1995)
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Journal Article
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
Plenge, Robert M, Hendrich, Brian D, Schwartz, Charles, Arena, J. Fernando, Naumova, Anna, Sapienza, Carmen, Winter, Robin M, Willard, Huntington F
Published in Nature genetics (01.11.1997)
Published in Nature genetics (01.11.1997)
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Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy
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
Published in Human molecular genetics (15.11.2001)
Published in Human molecular genetics (15.11.2001)
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Journal Article
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report
Wakeling, Emma L, Dattani, Mehul T, Bloch-Zupan, A, Winter, Robin M, Holder, Susan E
Published in Clinical dysmorphology (01.04.2003)
Published in Clinical dysmorphology (01.04.2003)
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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
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
Published in Journal of medical genetics (01.01.2000)
Published in Journal of medical genetics (01.01.2000)
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