Результаты поиска - Katherine A. Fawcett

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  1. 1
    The genetics of obesity: FTO leads the way

    The genetics of obesity: FTO leads the way по Katherine A. Fawcett, Inês Barroso

    Опубликовано 2010
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    Revisão
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  2. 2
    Adverse events experienced while transferring the critically ill patient from the emergency department to the intensive care unit

    Adverse events experienced while transferring the critically ill patient from the emergency department to the intensive care unit по Lucia Gillman, Gavin Leslie, Teresa A. Williams, Katherine A. Fawcett, Richard E. Bell, V McGibbon

    Опубликовано 2006
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    Artigo
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  3. 3
    Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

    Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation по Y.-T. Liu, Joshua Hersheson, Vincent Plagnol, Katherine A. Fawcett, Kate Duberley, Elisavet Preza, Iain P. Hargreaves, Annapurna Chalasani, Matilde Laurá, Nicholas Wood, Mary M. Reilly, Henry Houlden

    Опубликовано 2013
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    Artigo
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  4. 4
    CGAT: computational genomics analysis toolkit

    CGAT: computational genomics analysis toolkit по David Sims, Nicholas E. Ilott, Stephen N. Sansom, Ian Sudbery, Jethro S. Johnson, Katherine A. Fawcett, Antonio J. Berlanga‐Taylor, Sebastián Luna-Valero, Chris P. Ponting, Andreas Heger

    Опубликовано 2014
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    Artigo
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  5. 5
    <i>SPG7</i> mutations are a common cause of undiagnosed ataxia

    <i>SPG7</i> mutations are a common cause of undiagnosed ataxia по Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack W. Miller, Valerie Wilson, Lisa Turnbull, Katherine A. Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou, Rita Horváth, Andrea H. Németh, Patrick F. Chinnery

    Опубликовано 2015
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  6. 6
    Behavioral Variation in Gorillas: Evidence of Potential Cultural Traits

    Behavioral Variation in Gorillas: Evidence of Potential Cultural Traits по Martha M. Robbins, Chieko Ando, Katherine A. Fawcett, Cyril C. Grueter, Daniela Hedwig, Yuji Iwata, Jessica L. Lodwick, Shelly Masi, Roberta Salmi, Tara S. Stoinski, Angelique Todd, Veronica Vercellio, Juichi Yamagiwa

    Опубликовано 2016
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    Artigo
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  7. 7
    Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations

    Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations по Paul W. Franks, Olov Rolandsson, S. L. Debenham, Katherine A. Fawcett, Felicity Payne, Christian Dina, Philippe Froguel, Karen L. Mohlke, Cristen J. Willer, Tommy Olsson, Nicholas J. Wareham, G. Hallmans, Inês Barroso, Manjinder S. Sandhu

    Опубликовано 2007
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    Artigo
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  8. 8
    Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

    Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 по Lauren M. Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan P. Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine A. Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B. E. Becker, Andrea H. Németh

    Опубликовано 2017
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    Artigo
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  9. 9
    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia по Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine A. Fawcett, Vincent Plagnol, Kailash P. Bhatia, Alan Medlar, Horia Stanescu, John Hardy, Robert Kleta, Nicholas Wood, Henry Houlden

    Опубликовано 2012
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    Artigo
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  10. 10
    Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

    Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing по Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett, Amelie Pandraud, Yo‐Tsen Liu, Gabrielle L. Davidson, Alexander M. Rossor, James M. Polke, Victoria Castleman, Hadi Manji, Michael P. Lunn, Karen Bull, Gita Ramdharry, Mary B. Davis, Julian Blake, Henry Houlden, Mary M. Reilly

    Опубликовано 2012
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    Artigo
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  11. 11
    A truncation mutation in <i>TBC1D4</i> in a family with acanthosis nigricans and postprandial hyperinsulinemia

    A truncation mutation in <i>TBC1D4</i> in a family with acanthosis nigricans and postprandial hyperinsulinemia по Satya Dash, Hiroyuki Sano, Justin J. Rochford, Robert K. Semple, Giles S.H. Yeo, Caroline S. S. Hyden, Maria A. Soos, James E. Clark, Andrew Rodin, Claudia Langenberg, C. Druet, Katherine A. Fawcett, Y.C. Loraine Tung, Nicholas J. Wareham, Inês Barroso, Gustav E. Lienhard, Stephen O’Rahilly, David B. Savage

    Опубликовано 2009
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    Artigo
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  12. 12
    A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

    A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance по Charlotte J. Sumner, Constantin d’Ydewalle, Joe Wooley, Katherine A. Fawcett, Dena Hernández, A. Gardiner, Bernadett Kalmár, Robert H. Baloh, Michael Gonzalez, Stephan Züchner, Horia Stanescu, Robert Kleta, Ami Mankodi, David R. Cornblath, Khrista Boylan, Mary M. Reilly, Linda Greensmith, Andrew Singleton, Matthew B. Harms, Alexander M. Rossor, Henry Houlden

    Опубликовано 2013
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    Artigo
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  13. 13
    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy по Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, K Hudspith, Paul Skehel, Jonathan Williams, Mary O’Regan, Sandeep Jayawant, Rosalind J Jefferson, Sarah Hughes, Andrea Lustenberger, Jiannis Ragoussis, M. T. Jackson, Stephen J. Tucker, Andrea H. Németh

    Опубликовано 2015
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    Artigo
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  14. 14
    Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

    Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes по Amélie Bonnefond, Nathalie Clément, Katherine A. Fawcett, Loïc Yengo, Emmanuel Vaillant, Jean‐Luc Guillaume, Aurélie Dechaume, Felicity Payne, Ronan Roussel, Sébastien Czernichow, Serge Herçberg, Samy Hadjadj, Beverley Balkau, Michel Marre, Olivier Lantieri, Claudia Langenberg, Nabila Bouatia‐Naji, G. Charpentier, Martine Vaxillaire, Ghislain Rocheleau, Nicholas J. Wareham, Robert Sladek, Mark I. McCarthy, Christian Dina, Inês Barroso, Ralf Jockers, Philippe Froguel

    Опубликовано 2012
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    Artigo
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  15. 15
    Common variants in WFS1 confer risk of type 2 diabetes

    Common variants in WFS1 confer risk of type 2 diabetes по Manjinder S. Sandhu, Michael N. Weedon, Katherine A. Fawcett, Jon Wasson, S. L. Debenham, Allan Daly, Hana Lango Allen, Timothy M. Frayling, Rosalind J Neumann, Richard Sherva, Ilana Blech, Paul D.P. Pharoah, Colin N. A. Palmer, Charlotte H. Kimber, Roger Tavendale, Andrew D. Morris, Mark I. McCarthy, Mark Walker, G. A. Hitman, Benjamin Gläser, M. Alan Permutt, Andrew T. Hattersley, Nicholas J. Wareham, Inês Barroso

    Опубликовано 2007
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    Artigo
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  16. 16
    Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity

    Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity по Arianna Tucci, Eleanna Kara, Anna Schossig, Nicole I. Wolf, Vincent Plagnol, Katherine A. Fawcett, Coro Paisán‐Ruíz, Matthew Moore, Dena Hernández, S Musumeci, Michael B. Tennison, Raoul C. M. Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather C Mefford, Evan E. Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden

    Опубликовано 2012
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    Artigo
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  17. 17
    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation по Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy‐Anh Vu, Sally Ackermann, Careni Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman‐Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

    Опубликовано 2020
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  18. 18
    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

    De novo mutations in GRIN1 cause extensive bilateral polymicrogyria по Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz

    Опубликовано 2017
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  19. 19
    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities по Laura Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra Börklü, Marco Post, Nadia Bahi‐Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren, Alexandra Afenjar, Stephanie A. Coury, Wen‐Hann Tan, Renske Oegema, Linda S. de Vries, Katherine A. Fawcett, Peter G. J. Nikkels, Aida M. Bertoli‐Avella, Amal Al Hashem, Abdulmalik A. Alwabel, K. Tlili-Graiess, Stéphanie Efthymiou, Faisal Zafar, Nuzhat Rana, Farah Bibi, Henry Houlden, Reza Maroofian, Richard Person, Amy Crunk, Juliann M. Savatt, Lisbeth Turner, Mohammad Doosti, Ehsan Ghayoor Karimiani, Nebal Waill Saadi, Javad Akhondian, Maarten H. Lequin, Hülya Kayserili, Peter J. van der Spek, Anna Jansen, Johan M. Kros, Robert M. Verdijk, Nataša Jovanov Milošević, Maarten Fornerod, Pier G. Mastroberardino, Grazia M.S. Mancini

    Опубликовано 2019
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  20. 20
    Variants associated with HHIP expression have sex-differential effects on lung function

    Variants associated with HHIP expression have sex-differential effects on lung function по Katherine A. Fawcett, Ma’en Obeidat, Carl Melbourne, Nick Shrine, Anna L. Guyatt, Catherine John, Jian’an Luan, Anne Richmond, Marta R. Moksnes, Raquel Granell, Stefan Weiß, Medea Imboden, Sebastian May-Wilson, Pirro G. Hysi, Thibaud Boutin, Laura Portas, Claudia Flexeder, Sarah E. Harris, Carol A. Wang, Leo‐Pekka Lyytikäinen, Teemu Palviainen, Rachel E. Foong, Dirk Keidel, Cosetta Minelli, Claudia Langenberg, Yohan Bossé, Maarten van den Berge, Don D. Sin, Ke Hao, Archie Campbell, David J. Porteous, Sandosh Padmanabhan, Blair H. Smith, David M. Evans, Susan M. Ring, Arnulf Langhammer, Kristian Hveem, Cristen J. Willer, Ralf Ewert, Beate Stubbe, Nicola Pirastu, Lucija Klarić, Peter K. Joshi, Karina Patasova, Mangino Massimo, Ozren Polašek, John M. Starr, Stefan Karrasch, Konstantin Strauch, Thomas Meitinger, Igor Rudan, Taina Rantanen, Kirsi H. Pietiläinen, Mika Kähönen, Olli T. Raitakari, Graham L. Hall, Peter D. Sly, Craig E. Pennell, Jaakko Kaprio, Terho Lehtimäki, Véronique Vitart, Ian J. Deary, Deborah Jarvis, James F. Wilson, Tim D. Spector, Nicole Probst‐Hensch, Nicholas J. Wareham, Henry Völzke, John Henderson, David P. Strachan, Ben Brumpton, Caroline Hayward, Ian P. Hall, Martin D. Tobin, Louise V. Wain

    Опубликовано 2020
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