Resultats de la cerca - Alison Foster

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  1. 1
    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita per Hemanth Tummala, Amanda J. Walne, Laura C. Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed, Vincent Plagnol, Thomas J. Vulliamy, Inderjeet Dokal

    Publicat 2015
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  2. 2
    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype per Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, Denise Horn, Sarina G. Kant, Didier Lacombe, Eyby Leon, Saskia M. Maas, Daniela Melis, Valentina Muto, Soo‐Mi Park, Hilde Peeters, Dorien J.M. Peters, Rolph Pfundt, Conny M.A. van Ravenswaaij‐Arts, Marco Tartaglia, Raoul C. M. Hennekam

    Publicat 2016
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  3. 3
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals per Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    Publicat 2019
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  4. 4
    Ancient chicken remains reveal the origins of virulence in Marek’s disease virus

    Ancient chicken remains reveal the origins of virulence in Marek’s disease virus per Steven Fiddaman, Evangelos A. Dimopoulos, Ophélie Lebrasseur, Louis du Plessis, Bram Vrancken, Sophy Charlton, Ashleigh Haruda, Kristina Tabbada, Patrik G. Flammer, Stefan Dascalu, Nemanja Marković, Hannah M. Li, G. Franklin, Robert Symmons, Henriette Baron, László Daróczi-Szabó, Dilyara N. Shaymuratova, Igor Askeyev, Olivier Putelat, María Saña, Hossein Davoudi, Homa Fathi, Amir Saed Mucheshi, Ali A. Vahdati, Liangren Zhang, Alison Foster, Naomi Sykes, Gabrielle Cass Baumberg, Jelena Bulatović, Arthur Askeyev, Oleg Askeyev, Marjan Mashkour, Oliver G. Pybus, Venugopal Nair, Greger Larson, Adrian L. Smith, Laurent Frantz

    Publicat 2023
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  5. 5
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients per Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    Publicat 2019
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  6. 6
    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement per Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher

    Publicat 2018
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  7. 7
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome per Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Publicat 2018
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  8. 8
    Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

    Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders per Tarjinder Singh, Mitja Kurki, David Curtis, Shaun Purcell, Lucy Crooks, Jeremy F. McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen, Olli Pietiläinen, Sebastian S. Gerety, Muhammad Ayub, Moira Blyth, Trevor Cole, David Collier, Eve L. Coomber, Nick Craddock, Mark J. Daly, John Danesh, Marta Di Forti, Alison Foster, Nelson B. Freimer, Daniel H. Geschwind, Mandy Johnstone, Shelagh Joss, George Kirov, Jarmo Körkkö, Outi Kuismin, Peter Holmans, Christina M. Hultman, Conrad Iyegbe, Jouko Lönnqvist, Minna Männikkö, Steve McCarroll, Peter McGuffin, Andrew M. McIntosh, Andrew McQuillin, Jukka S. Moilanen, Carmel Moore, Robin Murray, Ruth Newbury‐Ecob, Willem H. Ouwehand, Tiina Paunio, Elena Prigmore, Elliott Rees, David J. Roberts, Jennifer Sambrook, Pamela Sklar, David St Clair, Juha Veijola, James Walters, Hywel Williams, Patrick F. Sullivan, Matthew E. Hurles, Michael O’Donovan, Aarno Palotie, Michael J. Owen, Jeffrey C. Barrett

    Publicat 2016
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  9. 9
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles per Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Publicat 2024
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