Resultados de búsqueda - Adam Shaw

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  1. 1
    The natural history of Noonan syndrome: a long-term follow-up study

    The natural history of Noonan syndrome: a long-term follow-up study por Adam Shaw, Kamini Kalidas, Andrew H. Crosby, Steven Jeffery, M A Patton

    Publicado 2006
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  2. 2
    Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

    Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome por Marco Tartaglia, Viviana Cordeddu, Hong Chang, Adam Shaw, Kamini Kalidas, Andrew H. Crosby, Michael A. Patton, M Sorcini, Ineke van der Burgt, Steve Jeffery, Bruce D. Gelb

    Publicado 2004
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  3. 3
    Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2

    Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2 por Rosalie E. Ferner, Adam Shaw, D. Gareth Evans, Dympna McAleer, Dorothy Halliday, Allyson Parry, F. Lucy Raymond, Juliette Durie-Gair, C. Oliver Hanemann, Rachel Hornigold, Patrick Axon, John F. Golding

    Publicado 2014
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  4. 4
    Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway

    Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway por Fiona E. McRonald, Joanna Pethick, Francesco Santaniello, B. A. Shand, Adele Tyson, Oliver Tulloch, Shilpi Goel, Margreet Lüchtenborg, Gillian M. Borthwick, Clare Turnbull, Adam Shaw, Kevin Monahan, Ian M. Frayling, Steven Hardy, John Burn

    Publicado 2024
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  5. 5
    PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

    PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity por Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L. Musat, Ineke van der Burgt, Han G. Brunner, Débora Romeo Bertola, Andrew H. Crosby, Andra Ion, Raju Kucherlapati, Steve Jeffery, Michael A. Patton, Bruce D. Gelb

    Publicado 2002
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  6. 6
    Phenotype and natural history in Marshall–Smith syndrome

    Phenotype and natural history in Marshall–Smith syndrome por Adam Shaw, Inge D.C. Van Balkom, Mislen Bauer, Trevor Cole, Marie‐Ange Delrue, Arie van Haeringen, Eva Holmberg, Samantha J.L. Knight, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Martin Zenker, Valérie Cormier‐Daire, Raoul C. M. Hennekam

    Publicado 2010
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  7. 7
    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme

    The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme por Kevin Monahan, Neil Ryan, Laura Monje‐Garcia, Ruth Armstrong, David N. Church, Jackie Cook, Alaa El‐Ghobashy, Fiona Lalloo, S. Lane, Frank McDermott, Tracie Miles, Steven Hardy, Adele Tyson, Valerie Ya Wen Wang, Anna Kim, Simone Gelinas, Francesca Faravelli, Frances Elmslie, Adam Shaw

    Publicado 2023
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  8. 8
    Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

    Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome por Valérie Malan, Diana Rajan, Sophie Thomas, Adam Shaw, H. Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri, Silvija Pušeljić, Laurence Legeai‐Mallet, Nigel P. Carter, Michel Vekemans, Arnold Münnich, Raoul C. M. Hennekam, Laurence Colleaux, Valérie Cormier‐Daire

    Publicado 2010
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  9. 9
    Discriminating Power of Localized Three-Dimensional Facial Morphology

    Discriminating Power of Localized Three-Dimensional Facial Morphology por Peter Hammond, Tim J. Hutton, Judith Allanson, Bernard Buxton, Linda Campbell, Jill Clayton‐Smith, Dian Donnai, Annette Karmiloff‐Smith, Kay Metcalfe, Kieran C. Murphy, Michael A. Patton, Barbara R. Pober, Katrina Prescott, Peter Scambler, Adam Shaw, Ann C. M. Smith, Angela Stevens, I. Karen Temple, Raoul C. M. Hennekam, May Tassabehji

    Publicado 2005
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  10. 10
    Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial

    Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial por Andrew Tutt, Holly Tovey, Maggie C.U. Cheang, Sarah Kernaghan, Lucy Kilburn, Patrycja Gazińska, Julie Owen, Jacinta Abraham, Sophie Barrett, Peter Barrett‐Lee, Robert Brown, Stephen Chan, Mitch Dowsett, James M. Flanagan, Lisa Fox, Anita Grigoriadis, Alexander Gutin, Catherine Harper‐Wynne, M. Hatton, Katherine A. Hoadley, Jyoti Parikh, Peter J. Parker, Charles M. Perou, Rebecca Roylance, Vandna Shah, Adam Shaw, Ian E. Smith, Kirsten M. Timms, Andrew Wardley, G. Wilson, Cheryl Gillett, Jerry S. Lanchbury, Alan Ashworth, Nazneen Rahman, Mark Harries, Peter Ellis, Sarah E. Pinder, Judith M. Bliss

    Publicado 2018
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  11. 11
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome por Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Publicado 2015
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  12. 12
    Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression

    Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression por D. Gareth Evans, Dorothy Halliday, Rupert Obholzer, Shazia Afridi, Claire Forde, Scott Rutherford, Charlotte Hammerbeck-Ward, Simon Lloyd, Simon Freeman, Omar Pathmanaban, Owen Thomas, Roger Laitt, Stavros Stivaros, John‐Paul Kilday, Grace Vassallo, Catherine McBain, Timothy Lavin, Chay Paterson, Gillian Whitfield, Martin G. McCabe, Patrick Axon, Jane Halliday, Samuel MacKeith, Allyson Parry, Patrick Axon, Juliette Buttimore, James R. Tysome, Neil Donnelly, Daniele Borsetto, James Whitworth, Anke Hensiek, R. Jena, Mathew R. Guilfoyle, Richard Mannion, James Nicholson, Brinda Muthusamy, Amy Taylor, Richard D. Price, Karine Edme, Nicola Gamazo, Zebunnisa Vanat, Daniel Scoffings, Josh Scott, Sarah Jefferies, Richard Knight, Tamara Lamb, Yu Chuen Tam, K. Foweraker, Fiona Harris, Paul Sanghera, Sara Meade, Richard Irving, Peter Monksfield, Nicola Ragge, Melanie Murrell, Julian Barwell, Martin English, Rikin Trivedi, Shazia Afridi, Rosalie E. Ferner, Rupert Obholzer, Victoria Williams, Chris Hammond, Karine Lascelles, Chris Skilbeck, Adam Shaw, Angela Swampillai, Suki Thomson, Nicholas J. Thomas, Eleni Maratos, Sinan Barazi, Rebecca Mullin, Susie M.D. Henley, Natalie Smith, Lal Carlton-Jones, Alison Baker, Mandy Myers, Terry Nunn, Charles Nduka, Raji Anup, Chris Duff, Simon Freeman, Nicola Jarvis, Ian Kamaly-Asl, Andrew T. King, Mark Kellett, John‐Paul Kilday, Simon Lloyd, Catherine McBain, Roger Laitt, Martin O’Driscoll, Martin G. McCabe, Mary Perry, Scott Rutherford, K. Henshaw, Stavros Stivaros, Owen Thomas, Grace Vassallo, Charlotte Hammerbeck-Ward, Omar Pathmanaban

    Publicado 2023
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  13. 13
    Germline selection shapes human mitochondrial DNA diversity

    Germline selection shapes human mitochondrial DNA diversity por Wei Wei, Salih Tuna, Michael J. Keogh, Katherine R. Smith, Timothy J. Aitman, Phil L. Beales, David Bennett, Daniel P. Gale, Maria Bitner‐Glindzicz, Graeme Black, Paul Brennan, Perry Elliott, Frances Flinter, R. Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, William G. Newman, Irene Roberts, John A. Sayer, Kenneth G. C. Smith, Jenny C. Taylor, Hugh Watkins, Andrew R. Webster, Andrew O.M. Wilkie, Catherine Williamson, Sofie Ashford, Christopher J. Penkett, Kathleen Stirrups, Augusto Rendon, Willem H. Ouwehand, John R. Bradley, F. Lucy Raymond, Mark J. Caulfield, Ernest Turro, Patrick F. Chinnery, Aarnoud Huissoon, Abigail Crisp-Hihn, Adam Shaw, Adam J. Mead, Adam P. Levine, Adrian J. Thrasher, Agnieszka Bierżyńska, Ahamad Hassan, Ajith Kumar, Alba Sanchis‐Juan, Alex Richter, Allan Lawrie, Amy Frary, Andrea H. Németh, Andrea Olschewski, Andreas C. Themistocleous, Andrew C. Browning, Andrew Mumford, Andrew M. Schaefer, Andrew Marshall, Andrew O.M. Wilkie, Andrew Peacock, Andrew R. Harper, Andrew R. Webster, Andrew S.C. Rice, Angela Pyle, Ania Koziell, Anna M. Drazyk, Anne M. Kelly, Annette Wagner, Anthony Attwood, Anthony De Soyza, Anthony M. Vandersteen, Anthony T. Moore, Anton Vonk Noordegraaf, Anupama Rao, Archana Herwadkar, Arjan C. Houweling, Arjune Sen, Augusto Rendon, Austen Worth, Barbara Girerd, Bella Madan, Brian T. Wilson, Carmen Bugarin Diz, Carmen Treacy, Carole Brewer, Carolyn Campbell, Carolyn M. Millar, Catherine Roughley, Catherine Titterton, Catherine Williamson, Cecilia Compton, Cesare Danesino, Chantal Thys, Charaka Hadinnapola, Charu Deshpande, Cheng‐Hock Toh, Chris Van Geet, Christian Babbs, C. Geoffrey Woods

    Publicado 2019
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