Search Results - Alison Gardner

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  1. 1
    Randomized Comparison of Cooked and Noncooked Diets in Patients Undergoing Remission Induction Therapy for Acute Myeloid Leukemia

    Randomized Comparison of Cooked and Noncooked Diets in Patients Undergoing Remission Induction Therapy for Acute Myeloid Leukemia by Alison Gardner, Gloria Mattiuzzi, Stefan Faderl, Gautam Borthakur, Guillermo Garcia‐Manero, Sherry Pierce, Mark Brandt, Elihu H. Estey

    Published 2008
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  2. 2
    The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene

    The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene by Kavita Bhalla, Hilary A. Phillips, Joanna Crawford, Olivia L. D. McKenzie, John C. Mulley, Helen J. Eyre, Alison Gardner, Gabriel Kremmidiotis, David F. Callen

    Published 2004
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  3. 3
    Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

    Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations by Michael Field, Ingrid E. Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie C. Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron A.G. Willis‐Owen, Jozef Gécz

    Published 2012
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  4. 4
    A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

    A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 by Mark Corbett, Melanie Bahlo, Lachlan A. Jolly, Zaid Afawi, Alison Gardner, Karen Oliver, Stanley Tan, A. Kirtland Coffey, John C. Mulley, Leanne M. Dibbens, Simri Walid, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gécz

    Published 2010
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  5. 5
    Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

    Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy by Mark Corbett, Clare L. van Eyk, Dani L. Webber, Stephen J. Bent, Morgan Newman, Kelly Harper, Jesia G. Berry, Dimitar N. Azmanov, Karen Woodward, Alison Gardner, Jennie Slee, Luis A. Pérez‐Jurado, Alastair H. MacLennan, Jozef Gécz

    Published 2018
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  6. 6
    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability by Lingli Huang, Lachlan A. Jolly, Saffron A.G. Willis‐Owen, Alison Gardner, Raman Kumar, Evelyn Douglas, Cheryl Shoubridge, Dagmar Wieczorek, Andreas Tzschach, Monika Cohen, Anna Hackett, Michael Field, Guy Froyen, Hao Hu, Stefan A. Haas, Hans‐Hilger Ropers, Vera M. Kalscheuer, Mark Corbett, Jozef Gécz

    Published 2012
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  7. 7
    Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

    Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus by Robyn H. Wallace, Ingrid E. Scheffer, Shaun Barnett, M. Richards, Leanne M. Dibbens, R. Desai, Tally Lerman‐Sagie, Dorit Lev, Aziz Mazarib, Nathan Brand, Bruria Ben‐Zeev, Igor Goikhman, Rita Singh, Gabriel Kremmidiotis, Alison Gardner, G.R. Sutherland, Alfred L. George, John C. Mulley, Samuel F. Berkovic

    Published 2001
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  8. 8
    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

    Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability by Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi, Sarah Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anné Proos, Helen Puusepp, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, G Turner, Michael Field, Randall S. Walikonis, Victoria L. Harvey, Anna Hackett, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz

    Published 2010
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  9. 9
    A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

    A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia by Mark Corbett, Michael Schwake, Melanie Bahlo, Leanne M. Dibbens, Meng Lin, Luke C. Gandolfo, Danya F. Vears, John D. O’Sullivan, Thomas Robertson, Marta A. Bayly, Alison Gardner, Annemarie Vlaar, Georg Christoph Korenke, Bastiaan R. Bloem, I.F.M. de Coo, Judith M.A. Verhagen, Anna‐Elina Lehesjoki, Jozef Gécz, Samuel F. Berkovic

    Published 2011
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  10. 10
    Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

    Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy by G. McMichael, Matthew N. Bainbridge, Eric Haan, Mark Corbett, Alison Gardner, Suzanna Thompson, Bregje W.M. van Bon, Clare L. van Eyk, J. L. BROADBENT, Chandra A. Reynolds, Michael O’Callaghan, Lam Son Nguyen, David L. Adelson, Remo Russo, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Donna M. Muzny, Richard A. Gibbs, Jozef Gécz, Alastair H. MacLennan

    Published 2015
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  11. 11
    The spectrum of SCN1A-related infantile epileptic encephalopathies

    The spectrum of SCN1A-related infantile epileptic encephalopathies by Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne M. Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette G. Sadleir, Eva Andermann, Deepak Gill, K Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frédérick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G. Jones, William Seltzer, Alison Gardner, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, Ingrid E. Scheffer

    Published 2007
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  12. 12
    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome by Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree Hodgson, Xenia Iona, Lynette G. Sadleir, James T. Pelekanos, Eric Herlenius, Hadassa Goldberg‐Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison Gardner, Mark Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

    Published 2012
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  13. 13
    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study by Michael J. Friez, Susan Sklower Brooks, Roger E. Stevenson, Michael Field, Monica J. Basehore, Lesley C. Adès, Courtney Sebold, Stephen J. McGee, Samantha Saxon, Cindy Skinner, Maria E. Craig, Lucy Murray, Richard J. Simensen, Ying Yzu Yap, Marie Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick Tarpey, Fatima Abidi, Jozef Gécz, Charles E. Schwartz

    Published 2016
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  14. 14
    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability by Raman Kumar, Mark Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gécz

    Published 2015
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  15. 15
    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity by Hiromi Hirata, Indrajit Nanda, Anne van Riesen, G. McMichael, Hao Hu, M Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair H. MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A. Haas, Wolfram Kreß, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G. Shaffer, Jill A. Rosenfeld, Nancy Kramer, Rena E. Falk, Dima El‐Khechen, Luis Escobar, Raoul C. M. Hennekam, Peter Wieacker, Christoph Hübner, Hans‐Hilger Ropers, Jozef Gécz, Markus Schuelke, Frédéric Laumonnier, Vera M. Kalscheuer

    Published 2013
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  16. 16
    Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

    Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation by Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, Katy Hills, David Jones, Tatiana Mironenko, Janet Perry, Jennifer Varian, Sofie West, Sara Widaa, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, David Richardson, Andy Jenkinson, Rebecca Shepherd, Keiran Raine, Jenny Moon, Yin Luo, Josep Parnau, Shambhu S. Bhat, Alison Gardner, Mark Corbett, Doug A. Brooks, Paul Q. Thomas, Emma J. Parkinson-Lawrence, Mary Porteous, Jon Warner, T. L. Sanderson, Pauline Pearson, Richard J. Simensen, Cindy Skinner, George Hoganson, Duane Superneau, Richard Wooster, Martin Bobrow, Gillian Turner, Roger E. Stevenson, Charles E. Schwartz, P. Andrew Futreal, Anand Srivastava, Michael R. Stratton, Jozef Gécz

    Published 2007
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  17. 17
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 by Mark Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron M. Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid M. Regan, Douglas E. Crompton, Anne‐Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin A. Smith, Alfredo Berardelli, Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Eric LeGuern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz

    Published 2019
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  18. 18
    A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

    A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation by Patrick Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O’Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matthew J. Blow, Chris Greenman, Yali Xue, Chris Tyler‐Smith, Deborah J. Thompson, Kristian Gray, J. M. Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, R. James Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon W. Teague, Adam P. Butler, Andy Jenkinson, Mingming Jia, David S. Richardson, Rebecca Shepherd, Richard Wooster, María‐Isabel Tejada, Francisco Martı́nez, Gemma L. Carvill, René Goliath, Arjan P.M. de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans‐Hilger Ropers, Fatima Abidi, Anand K. Srivastava, James J. Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F. Easton, Jackie Boyle, M. W. Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E. Stevenson, Martin Bobrow, Gillian Turner, Charles E. Schwartz, Jozef Gécz, F. Lucy Raymond, P. Andrew Futreal, Michael R. Stratton

    Published 2009
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  19. 19
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies by Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Published 2018
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  20. 20
    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes by Hao Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen, Suzanna G.M. Frints, Frédéric Laumonnier, Tomasz Żemojtel, Michael I. Love, Hugues Richard, A-K Emde, Melanie Bienek, Corinna Jensen, M Hambrock, Utz Fischer, Claudia Langnick, Mirjam Feldkamp, W.M. Wissink-Lindhout, Nicolas Lebrun, L. Castelnau, J. Rucci, Rodrick Montjean, Olivier Dorseuil, Pierre Billuart, Till Stuhlmann, M Shaw, Mark Corbett, Alison Gardner, Saffron A.G. Willis‐Owen, Chuan Tan, Kathryn Friend, Stefanie Belet, Kees E. P. van Roozendaal, M Jimenez-Pocquet, M.‐P. Moizard, Nathalie Ronce, Ren Sun, Sean O’Keeffe, R Chenna, Alena van Bömmel, Jonathan Göke, Anna Hackett, Michael Field, Louise Christie, Jackie Boyle, Eric Haan, John W. Nelson, Gillian Turner, Gareth Baynam, Gabriele Gillessen‐Kaesbach, Ulrich Müller, Daniela Steinberger, Bartłomiej Budny, Magdalena Badura‐Stronka, Anna Latos‐Bieleńska, Lilian Bomme Ousager, Peter Wieacker, Germán Rodríguez Criado, M.-L. Bondeson, Göran Annerén, Andreas Dufke, Monika Cohen, Lionel Van Maldergem, C. Vincent‐Delorme, Bernard Échenne, Brigitte Simon‐Bouy, Tjitske Kleefstra, Marjolein H. Willemsen, J-P. Fryns, Koenraad Devriendt, Reinhard Ullmann, Martin Vingron, Klaus Wrogemann, Thomas F. Wienker, Andreas Tzschach, Hans van Bokhoven, Jozef Gécz, Thomas J. Jentsch, W. Chen, H‐H Ropers, Vera M. Kalscheuer

    Published 2015
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