Výsledky vyhledávání - Cheryl Shoubridge

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  1. 1
    <i>IQSEC2</i>mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

    <i>IQSEC2</i>mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy Autor Cheryl Shoubridge, Victoria L. Harvey, Tracy Dudding‐Byth

    Vydáno 2018
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  2. 2
    Hospital-based interventions addressing social needs: A systematic narrative review

    Hospital-based interventions addressing social needs: A systematic narrative review Autor Kate Neadley, Cheryl Shoubridge, John Lynch, Mark Boyd, Brianna Poirier

    Vydáno 2025
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  3. 3
    Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

    Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans Autor Benjamin Mayne, Tina Bianco‐Miotto, Sam Buckberry, James Breen, Vicki L. Clifton, Cheryl Shoubridge, Claire T. Roberts

    Vydáno 2016
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  4. 4
    Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

    Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders Autor Ching Moey, Susan J. Hinze, Louise Brueton, Jenny Morton, Dominic McMullan, Benjamin Kamien, Christopher Barnett, Nicola Brunetti‐Pierri, Jillian Nicholl, Jozef Gécz, Cheryl Shoubridge

    Vydáno 2015
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  5. 5
    A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

    A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX Autor Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, G Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gécz, Matilde Valeria Ursini, Maria Giuseppina Miano

    Vydáno 2012
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  6. 6
    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism Autor Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud

    Vydáno 2009
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  7. 7
    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

    A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability Autor 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

    Vydáno 2012
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  8. 8
    Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

    Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability Autor Lam Son Nguyen, Lachlan A. Jolly, Cheryl Shoubridge, Wai-Kin Chan, Lulu Huang, Frédéric Laumonnier, Martine Raynaud, Anna Hackett, Michael Field, Jayson Rodriguez, Anand Srivastava, Y Lee, R Long, Anjené Addington, Judith L. Rapoport, Suganthi Suren, Christopher N Hahn, Jennifer R. Gamble, Miles Wilkinson, Mark Corbett, Jozef Gécz

    Vydáno 2011
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  9. 9
    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 Autor 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

    Vydáno 2010
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  10. 10
    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

    Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency Autor Chuan Tan, Chloé Shard, Enzo Ranieri, Kim Hynes, Duyen Pham, Damien A. Leach, Grant Buchanan, Mark Corbett, Cheryl Shoubridge, Raman Kumar, Evelyn Douglas, Lam Son Nguyen, Jacinta M. McMahon, Lynette G. Sadleir, Nicola Specchio, Carla Marini, Renzo Guerrini, Rikke S. Møller, Christel Depienne, Eric Haan, Paul Q. Thomas, Samuel F. Berkovic, Ingrid E. Scheffer, Jozef Gécz

    Vydáno 2015
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  11. 11
    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy Autor Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth E. Palmer, Michael Field, Jackie Boyle, David Chitayat, William D. Gaillard, Eric H. Kossoff, Marjolaine Willems, David Geneviève, Frédéric Tran Mau‐Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel‐Paulet, Amélie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky‐Silver, Tally Lerman‐Sagie

    Vydáno 2016
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  12. 12
    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 Autor 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

    Vydáno 2007
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  13. 13
    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment Autor Leanne M. Dibbens, Patrick Tarpey, Kim Hynes, Marta A. Bayly, Ingrid E. Scheffer, Raffaella Smith, Jamee M. Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J. Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, Andy Jenkinson, Rebecca Shepherd, James F. Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y. Neufeld, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Amos D. Korczyn, Christopher P. Derry, Grant R. Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung‐Goo Kim, Daniel H. Geschwind, Paul Q. Thomas, Eric Haan, Stephen G. Ryan, Shane McKee, Samuel F. Berkovic, P. Andrew Futreal, Michael R. Stratton, John C. Mulley, Jozef Gécz

    Vydáno 2008
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  14. 14
    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 Autor 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

    Vydáno 2009
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