Výsledky vyhledávání - Hayley Archer

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  1. 1
    Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

    Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients Autor Hayley Archer

    Vydáno 2005
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  2. 2
    Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice

    Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice Autor Basil Cardoza, Angus Clarke, Jodie Wilcox, Frances Gibbon, Phil E M Smith, Hayley Archer, Anna Hryniewiecka‐Jaworska, Mike Kerr

    Vydáno 2011
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  3. 3
    Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

    Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation Autor Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark E.S. Bailey, Julian R. Sampson, Nicholas de Klerk, Angus Clarke

    Vydáno 2006
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  4. 4
    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients Autor Hayley Archer, Julie Evans, Stuart W. Edwards, James Colley, Ruth Newbury‐Ecob, Finbar O’Callaghan, Margaret Huyton, M O'Regan, John Tolmie, Julian R. Sampson, Angus Clarke, J. P. Osborne

    Vydáno 2006
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  5. 5
    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

    De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability Autor Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, Michael Parker, Hayley Archer, Helen V. Firth, Soo‐Mi Park, Natalie Canham, Susan Holder, Meredith Wilson, Anna Hackett, Michael Field, James Floyd, Matthew E. Hurles, F. Lucy Raymond

    Vydáno 2014
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  6. 6
    Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

    Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation Autor Linda S. Weaving, John Christodoulou, Sarah Williamson, K. Friend, Olivia L. D. McKenzie, Hayley Archer, Julie Evans, Angus Clarke, Gregory J. Pelka, Patrick Tam, Catherine M. Watson, Hooshang Lahooti, Carolyn Ellaway, Bruce Bennetts, Helen Leonard, Jozef Gécz

    Vydáno 2004
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  7. 7
    Early onset seizures and Rett-like features associated with mutations in CDKL5

    Early onset seizures and Rett-like features associated with mutations in CDKL5 Autor Julie Evans, Hayley Archer, James Colley, Kirstine Ravn, Jytte Bieber Nielsen, Alison Kerr, Elizabeth Williams, John Christodoulou, Jozef Gécz, Philip Jardine, Michael Wright, Daniela T. Pilz, L. Lazarou, D.N. Cooper, Julian R. Sampson, Rachel Butler, Sharon D. Whatley, Angus Clarke

    Vydáno 2005
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  8. 8
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study Autor Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Vydáno 2016
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  9. 9
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders Autor Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Vydáno 2017
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  10. 10
    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Autor Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, C. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Patricia G. Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, A. Micheil Innes, Ping Yee Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong‐Hee Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marion Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L.I. van Gassen, Ellen van Binsbergen, Ruth Newbury‐Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, E Blair, Moira Blyth

    Vydáno 2018
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  11. 11
    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia Autor Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro

    Vydáno 2019
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