Search Results - Elizabeth M. Thompson

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  1. 1
    Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

    Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. by Elizabeth M. Thompson, I D Young, C. Michael Hall, Marcus Pembrey

    Published 1987
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  2. 2
    Amniotic bands in connective tissue disorders.

    Amniotic bands in connective tissue disorders. by I D Young, R H Lindenbaum, Elizabeth M. Thompson, Marcus Pembrey

    Published 1985
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  3. 3
    Multiple pterygium syndrome: evolution of the phenotype.

    Multiple pterygium syndrome: evolution of the phenotype. by Elizabeth M. Thompson, D Donnai, M Baraitser, C. Michael Hall, Marcus Pembrey, J. A. Fixsen

    Published 1987
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  4. 4
    Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation

    Novel TFAP2B Mutations That Cause Char Syndrome Provide a Genotype-Phenotype Correlation by Feng Zhao, Constance G. Weismann, Masahiko Satoda, Mary Ella Pierpont, Elizabeth Sweeney, Elizabeth M. Thompson, Bruce D. Gelb

    Published 2001
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  5. 5
    Functional performance in young Australian children with achondroplasia

    Functional performance in young Australian children with achondroplasia by Penelope J. Ireland, James McGill, Andreas Zankl, Robert S. Ware, Verity Pacey, J. Ault, Ravi Savarirayan, David Sillence, Elizabeth M. Thompson, Sharron Townshend, Leanne M. Johnston

    Published 2011
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  6. 6
    Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

    Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9 by Agnes A. Luty, John B. Kwok, Elizabeth M. Thompson, Peter Blumbergs, William S. Brooks, Clement T. Loy, Carol Dobson‐Stone, Peter K. Panegyres, Jane Hecker, Garth A. Nicholson, Glenda M. Halliday, Peter R. Schofield

    Published 2008
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  7. 7
    C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

    C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients by Carol Dobson‐Stone, Marianne Hallupp, Clement T. Loy, Elizabeth M. Thompson, Eric Haan, Carolyn M. Sue, Peter K. Panegyres, Cristina Razquín, Manuel Seijo‐Martínez, Ramón Reñé, Jordi Gascón, Jaume Campdelacreu, Birgit Schmoll, Alexander E. Volk, William S. Brooks, Peter R. Schofield, Pau Pástor, John B. Kwok

    Published 2013
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  8. 8
    Functional characterization of novel <i>NR5A1</i> variants reveals multiple complex roles in disorders of sex development

    Functional characterization of novel <i>NR5A1</i> variants reveals multiple complex roles in disorders of sex development by Gorjana Robevska, Jocelyn A. van den Bergen, Thomas Ohnesorg, Stefanie Eggers, Chloe Hanna, Remko Hersmus, Elizabeth M. Thompson, Anne Baxendale, Charles F. Verge, Antony Lafferty, Nanis S. Marzuki, Ardy Santosa, Nurin Aisyiyah Listyasari, Stefan Riedl, Garry L. Warne, Leendert H. J. Looijenga, Sultana MH Faradz, Katie L. Ayers, Andrew Sinclair

    Published 2017
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  9. 9
    Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly

    Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly by Kelly Bear, Benjamin D. Solomon, Sonir Roberto Rauber Antonini, Ivo J.P. Arnhold, Marcela M. França, Erica H. Gerkes, Dorothy K. Grange, Donald W. Hadley, Jarmo Jääskeläinen, Sabrina Soares Paulo, Patrick Rump, Constantine A. Stratakis, Elizabeth M. Thompson, Mary Willis, Thomas Winder, Alexander A.L. Jorge, Erich Roessler, Maximilian Muenke

    Published 2014
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  10. 10
    Molecular consequences of dominant Bethlem myopathy collagen VI mutations

    Molecular consequences of dominant Bethlem myopathy collagen VI mutations by Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard D. Jacobson, Rosaline C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman, Shireen R. Lamandé

    Published 2007
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  11. 11
    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A by Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García‐Miñaúr, Richard J. Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder‐Espinasse, Richard H. Scott, Elizabeth M. Thompson, Terry Robertson, Brian Coppin, Robert J. Siegel, Montserrat Bret Zurita, José Ignacio Rodrı́guez, Carmen del Rocío Monedero Morales, Yuri Blanc Rodrigues, Joaquín Arcas, Anand Saggar, Margaret A. Horton, Elaine H. Zackai, John M. Graham, David L. Rimoin, Stephen P. Robertson

    Published 2012
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  12. 12
    Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

    Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy by Vandana Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J. Todd, Lindsay C. Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F. Clarke, Basil T. Darras, Michelle A. Farrar, Amal Hashem, Nicholas Manton, Francesco Muntoni, Kathryn N. North, Sarah A. Sandaradura, Ichizo Nishino, Yukiko Hayashi, Caroline A. Sewry, Elizabeth M. Thompson, Kyle S. Yau, Catherine A. Brownstein, Timothy W. Yu, Richard J. N. Allcock, Mark R. Davis, Carina Wallgren‐Pettersson, Naomichi Matsumoto, Fowzan S. Alkuraya, Nigel G. Laing, Alan H. Beggs

    Published 2013
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  13. 13
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains by Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    Published 2017
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  14. 14
    CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

    CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis by Carol Dobson‐Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey Ragagnin, Zac Chatterton, Francine Carew‐Jones, Claire E. Shepherd, Holly Stefen, Esmeralda Parić, Thomas Fath, Elizabeth M. Thompson, Peter Blumbergs, Cathy L. Short, Colin D. Field, Peter K. Panegyres, Jane Hecker, Garth A. Nicholson, Alex D. Shaw, Janice M. Fullerton, Agnes A. Luty, Peter R. Schofield, William S. Brooks, Neil Rajan, Mark F. Bennett, Melanie Bahlo, N.A. Shankaracharya, John E. Landers, Olivier Piguet, John R. Hodges, Glenda M. Halliday, Simon Topp, Bradley Smith, Christopher E. Shaw, Emily P. McCann, Jennifer A. Fifita, Kelly L. Williams, Julie D. Atkin, Ian P. Blair, John B. Kwok

    Published 2020
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  15. 15
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> by Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    Published 2012
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  16. 16
    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant by David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra‐Knol, Jessie H. Conta, Ana María Fortuna, Gabriele Gillessen‐Kaesbach, Sarah Dugan, Sara Halbach, Omar Abdul‐Rahman, Heather M Winesett, Wendy K. Chung, Marguerite B. Dalton, Petia Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir‐Kwa, Marjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C.J. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Õunap, Lynne M. Bird, Diane Masser‐Frye, Jennifer Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesús Flórez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gécz, Corrado Romano, Evan E. Eichler, Bert BA de Vries

    Published 2015
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  17. 17
    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype by Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen Simon, Sarah Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa Lees, Louise C. Wilson, Alison Male, Jane A. Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M.H.F. Bongers, Valérie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette S. den Hollander, Tessa Homfray, Hanne Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine Knoers, Paul Coucke, Geert Mortier

    Published 2015
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  18. 18
    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 by 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

    Published 2014
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  19. 19
    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort by Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke S. Lambeth, Aurore Bouty, Ingrid Knarston, Tiong Yang Tan, Fergus Cameron, George A. Werther, John Hutson, Michele A. O’Connell, Sonia Grover, Yves Héloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F. Hunter, Shubha Srinivasan, Angela Titmuss, Charles F. Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M. Leong, Makato Ono, Antony Lafferty, Tony Huynh, Uma Visser, Catherine S. Choong, F. Ellis McKenzie, Nicholas Pachter, Elizabeth M. Thompson, Jennifer Couper, Anne Baxendale, Jozef Gécz, Benjamin J. Wheeler, Craig Jefferies, Karen E. MacKenzie, Paul L. Hofman, Philippa Carter, Richard King, Csilla Krausz, Conny M.A. van Ravenswaaij‐Arts, Leendert H. J. Looijenga, S L S Drop, Stefan Riedl, Martine Cools, Angelika J. Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem, Tran Kiem Hao, Vincent R. Harley, Peter Koopman, Garry L. Warne, Sultana MH Faradz, Alicia Oshlack, Katie L. Ayers, Andrew Sinclair

    Published 2016
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