Resultats de la cerca - Catherine Mercer

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  1. 1
    Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

    Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort per Júlia Baptista, Catherine Mercer, Elena Prigmore, Susan Gribble, Nigel P. Carter, Viv Maloney, N. Simon Thomas, Patricia A. Jacobs, John A. Crolla

    Publicat 2008
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  2. 2
    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly

    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly per Reuben J. Pengelly, Stephanie Greville‐Heygate, Susanne Schmidt, Eleanor G. Seaby, M. Reza Jabalameli, Sarju Mehta, Michael Parker, David Goudie, Christine Fagotto‐Kaufmann, Catherine Mercer, Anne Debant, Sarah Ennis, Diana Baralle

    Publicat 2016
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  3. 3
    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH per Joe Rainger, Hemant Bengani, Lauren Campbell, Eric C. Anderson, K. Sokhi, Wayne Lam, Angelika Rieß, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn J. McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, S. McKay, Hilary G. Morrison, Bethan Medina, Marcus Robertson, Jürgen Kohlhase, Christopher T. Gordon, J M Kirk, Dagmar Wieczorek, David Fitzpatrick

    Publicat 2012
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  4. 4
    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine

    The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine per Hayley C. Whitaker, Zsofia Kote‐Jarai, Helen Ross‐Adams, Anne Y. Warren, Johanna Burge, Anne George, Elizabeth Bancroft, Sameer Jhavar, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Edward J. Saunders, Elizabeth Page, Anita Mitra, Gillian Mitchell, Geoffrey J. Lindeman, D. Gareth Evans, Ignacio Blanco, Catherine Mercer, Wendy S. Rubinstein, Virginia Clowes, Fiona Douglas, Shirley Hodgson, Lisa Walker, Alan Donaldson, Louise Izatt, Huw Dorkins, Alison Male, Kathy Tucker, Alan M. F. Stapleton, Jimmy Lam, Judy Kirk, Hans Lilja, Douglas F. Easton, Colin Cooper, Rosalind A. Eeles, David E. Neal

    Publicat 2010
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  5. 5
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome per Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    Publicat 2025
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  6. 6
    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants per Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglæde, Diana Baralle, Daniela Q.C.M. Barge‐Schaapveld, Moira Blyth, Mieke C. Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valérie Cormier‐Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jørgensen, Sarina G. Kant, Cathy Kirally-Borri, David A. Koolen, Ajith Kumar, Anatália Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury‐Ecob, Daniela T. Pilz, Renata Posmyk, Carlos E. Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter D. Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra‐Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman

    Publicat 2018
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  7. 7
    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond per Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Daniel Bauer, Renske Oegema, Caroline Nava, Elena Parrini, Davide Mei, Catherine Mercer, Radhika Dhamija, Chelsea Chambers, Christine Coubes, Julien Thévenon, Paul Kuentz, Sophie Julia, Laurent Pasquier, Christèle Dubourg, Wilfrid Carré, Anna Rosati, Federico Melani, Tiziana Pisano, Maria Giardino, A. Micheil Innes, Yves Alembik, Sophie Scheidecker, Manuela M. Santos, Sónia Figueiroa, Cristina Garrido, Carlo Fusco, Daniele Frattini, Carlotta Spagnoli, Anna Binda, Tiziana Granata, Francesca Ragona, Elena Freri, Silvana Franceschetti, Laura Canafoglia, Barbara Castellotti, Cinzia Gellera, Raffaella Milanesi, Maria Margherita Mancardi, Damien R Clark, Fernando Kok, Katherine L. Helbig, Shoji Ichikawa, Laurie S. Sadler, Jana Neupauerová, Petra Laššuthová, Katalin Štěrbová, Annick Laridon, Eva H. Brilstra, Bobby P.C. Koeleman, Johannes R. Lemke, Federico Zara, Pasquale Striano, Julie Soblet, Guillaume Smits, Nicolas Deconinck, Andrea Barbuti, Dario DiFrancesco, Eric LeGuern, Renzo Guerrini, Bina Santoro, Kay Hamacher, Gerhard Thiel, Anna Moroni, Jacopo C. DiFrancesco, Christel Depienne

    Publicat 2018
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  8. 8
    Targeted prostate cancer screening in men with mutations in <i>BRCA1</i> and <i>BRCA2</i> detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

    Targeted prostate cancer screening in men with mutations in <i>BRCA1</i> and <i>BRCA2</i> detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT stud... per Anita Mitra, Elizabeth Bancroft, Yolanda Barbáchano, Elizabeth Page, Christopher S. Foster, Charles Jameson, Gillian Mitchell, Geoffrey J. Lindeman, Andrew J. Stapleton, Graeme Suthers, D. Gareth Evans, D. G. Crüger, Ignacio Blanco, Catherine Mercer, Judy Kirk, Lovise Mæhle, Shirley Hodgson, Lyndon Walker, Louise Izatt, Gillian Douglas, Katherine Tucker, Huw Dorkins, Virginia Clowes, Alison Male, Alan Donaldson, C Brewer, Rebecca Doherty, Barbara Bulman, Palle Jørn Sloth Osther, Mónica Salinas, Diana Eccles, Karol Axcrona, Irene Jobson, Barbara Newcombe, Cezary Cybulski, Wendy S. Rubinstein, Saundra S. Buys, Sharron Townshend, Eitan Friedman, Susan M. Domchek, Teresa Ramón y Cajal, Allan D. Spigelman, Soo‐Hwang Teo, Nicola Nicolai, Neil K. Aaronson, Audrey Ardern‐Jones, Chris Bangma, David Dearnaley, Jórunn E. Eyfjörd, Alison Falconer, Henrik Grönberg, Freddie C. Hamdy, Óskar Þór Jóhannsson, Vincent Khoo, Zsofia Kote‐Jarai, Hans Lilja, Jan Lubiński, J Melia, Clare Moynihan, S. Peock, Gad Rennert, Fritz H. Schröder, Paul Sibley, Mohnish Suri, Penny Wilson, Y. J. Bignon, Sara S. Strom, Marc Tischkowitz, Annelie Liljegren, Denisa Ilenčíková, A. Abele, Kyriacos Kyriacou, Christi J. van Asperen, Lambertus A. Kiemeney, Douglas F. Easton, Rosalind A. Eeles

    Publicat 2010
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  9. 9
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism per Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Publicat 2014
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  10. 10
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes per Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

    Publicat 2008
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