檢索結果 - Charles Shaw‐Smith

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  1. 1
    Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

    Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology 由 Charles Shaw‐Smith

    出版 2005
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  2. 2
    Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature

    Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of... 由 Charles Shaw‐Smith

    出版 2009
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  3. 3
    Review of genetic factors in intestinal malrotation

    Review of genetic factors in intestinal malrotation 由 Vicki Martin, Charles Shaw‐Smith

    出版 2010
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  4. 4
    Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

    Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects 由 Gurdeep S. Sagoo, Adam S. Butterworth, Simon Sanderson, Charles Shaw‐Smith, Julian P. T. Higgins, Hilary Burton

    出版 2009
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  5. 5
    <i>GATA6</i> Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

    <i>GATA6</i> Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency 由 Elisa De Franco, Charles Shaw‐Smith, Sarah E. Flanagan, Maggie Shepherd, Andrew T. Hattersley, Sian Ellard

    出版 2012
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  6. 6
    GATA6 haploinsufficiency causes pancreatic agenesis in humans

    GATA6 haploinsufficiency causes pancreatic agenesis in humans 由 Hana Lango Allen, Sarah E. Flanagan, Charles Shaw‐Smith, Elisa De Franco, İldem Akerman, Richard Caswell, Jorge Ferrer, Andrew T. Hattersley, Sian Ellard

    出版 2011
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  7. 7
    Clinical geneticists' views of VACTERL/VATER association

    Clinical geneticists' views of VACTERL/VATER association 由 Benjamin D. Solomon, Kelly Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw‐Smith, Dick Tibboel, Heiko Reutter, Philip F. Giampietro

    出版 2012
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  8. 8
    Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

    Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder 由 Rhian Clissold, Charles Shaw‐Smith, Peter D. Turnpenny, Benjamin Bunce, Detlef Böckenhauer, Larissa Kerecuk, Simon Waller, Pamela Bowman, Tamsin Ford, Sian Ellard, Andrew T. Hattersley, Coralie Bingham

    出版 2016
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  9. 9
    Biallelic <i>PDX1</i> (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

    Biallelic <i>PDX1</i> (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency 由 Elisa De Franco, Charles Shaw‐Smith, Sarah E. Flanagan, E. L. Edghill, Jacek Wolf, Vern Otte, Friedrich Ebinger, P Varthakavi, Thiruvengadam Vasanthi, Stig Edvardsson, Andrew T. Hattersley, Sian Ellard

    出版 2013
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  10. 10
    Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

    Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice 由 Victoria Randall, Karen McCue, Catherine Roberts, Vanessa Kyriakopoulou, Sarah Beddow, Angela N. Barrett, Francesca Vitelli, Katrina Prescott, Charles Shaw‐Smith, Koenraad Devriendt, Erika A. Bosman, Georg Steffes, Karen P. Steel, Subreena Simrick, M. Albert Basson, Elizabeth Illingworth, Peter Scambler

    出版 2009
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  11. 11
    3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

    3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome 由 Lionel Willatt, James J. Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David Fitzpatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw‐Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B.A. de Vries, Kate Walker, F. Lucy Raymond

    出版 2005
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  12. 12
    <i>GATA4</i> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

    <i>GATA4</i> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes 由 Charles Shaw‐Smith, Elisa De Franco, Hana Lango Allen, Marta Batlle, Sarah E. Flanagan, Maciej Borowiec, Craig E. Taplin, Janiëlle van Alfen-van der Velden, Jaime Cruz‐Rojo, Guiomar Pérez de Nanclares, Zosia Miedzybrodzka, Grażyna Deja, Iwona Włodarska, Wojciech Młynarski, Jorge Ferrer, Andrew T. Hattersley, Sian Ellard

    出版 2014
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  13. 13
    Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

    Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis 由 Michael N. Weedon, Inês Cebola, Ann‐Marie Patch, Sarah E. Flanagan, Elisa De Franco, Richard Caswell, Santiago A. Rodríguez‐Seguí, Charles Shaw‐Smith, Candy H.-H. Cho, Hana Lango Allen, Jayne Houghton, Christian L. Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, Sian Ellard, Jorge Ferrer, Andrew T. Hattersley

    出版 2013
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  14. 14
    High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

    High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia 由 Serena Nik‐Zainal, Reiner Strick, Mekayla A. Storer, Ni Huang, Roland Rad, Lionel Willatt, Tomas Fitzgerald, Vicente Martín, Richard Sandford, Nigel P. Carter, Andreas Janecke, Stefan P. Renner, Patricia G. Oppelt, Patricia G. Oppelt, Christine Schulze, Sara Y. Brucker, Matthew E. Hurles, Matthias W. Beckmann, Pamela L. Strissel, Charles Shaw‐Smith

    出版 2011
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  15. 15
    VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i>

    VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i> 由 Dorota Szumska, Guido Pieles, Rachid Essalmani, Michal Bilski, Daniel Mesnard, Kulvinder Kochar Kaur, Angela Franklyn, Kamel El Omari, Joanna M. Jefferis, Jamie Bentham, Jennifer M. Taylor, Jürgen E. Schneider, Sebastian J. Arnold, Paul Johnson, Zuzanna Tymowska‐Lalanne, D.K. Stammers, Kieran Clarke, Stefan Neubauer, Andrew P. Morris, Steve D. M. Brown, Charles Shaw‐Smith, Armando Cama, Valeria Capra, Jiannis Ragoussis, Daniel B. Constam, Nabil G. Seidah, Annik Prat, Shoumo Bhattacharya

    出版 2008
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  16. 16
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations 由 Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith

    出版 2009
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  17. 17
    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis 由 Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau‐Them, Eglė Preikšaitienė, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaitytė, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim Jiin Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michael R. Wiederkehr, Caroline F. Wright, Ioannis Xénarios, Gijs van Haaften, Charles Shaw‐Smith, Erica Schindewolf, Marguerite Neerman‐Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

    出版 2017
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  18. 18
    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability 由 Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw‐Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane‐Yeboa, Gaetana Cerbone, Jill Clayton‐Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cédric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah‐Politi, Nicholas Stong, Tim M. Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot

    出版 2018
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  19. 19
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome 由 Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    出版 2025
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  20. 20
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations 由 Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Melissa K. Maisenbacher, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Virginia A. Hustead, Kristin Mascotti, Regina Schultz, Lavinia Hallam, D. Harold McRae, Andrew G. Nicholson, Robert Newbury, Jane Durham-O'Donnell, G. R. Knight, Usha Kini, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, C. Jones, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith

    出版 2009
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