Resultados de búsqueda - Alistair T. Pagnamenta

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  1. 1
    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion por Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada

    Publicado 2005
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  2. 2
    Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

    Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection por Nuala Sykes, Claudio Toma, Natalie Wilson, Emanuela V. Volpi, Inês Sousa, Alistair T. Pagnamenta, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini, Anthony Bailey, Anthony P. Monaco

    Publicado 2009
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  3. 3
    Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

    Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry por Inês Sousa, Taane G. Clark, Richard Holt, Alistair T. Pagnamenta, Erik J. Mulder, Ruud B. Minderaa, Anthony Bailey, Agatino Battaglia, Sabine M. Klauck, Fritz Poustka, Anthony P. Monaco

    Publicado 2010
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  4. 4
    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis por Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini

    Publicado 2015
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  5. 5
    FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

    FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy por Elisa Fassone, Andrew Duncan, Jan‐Willem Taanman, Alistair T. Pagnamenta, Michael I. Sadowski, Tatjana Holand, Waseem Qasim, Paul Rutland, Sarah E. Calvo, Vamsi K. Mootha, Maria Bitner‐Glindzicz, Shamima Rahman

    Publicado 2010
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  6. 6
    Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

    Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss por Mark Houseman, Lucy Ellis, Alistair T. Pagnamenta, Wei‐Li Di, Sarah Rickard, Amelia H. Osborn, H Dahl, Graham R. Taylor, M. Bitner-Glindzicz, William Reardon, R F Mueller, David P. Kelsell

    Publicado 2001
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  7. 7
    A 15q13.3 microdeletion segregating with autism

    A 15q13.3 microdeletion segregating with autism por Alistair T. Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha J.L. Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M. Klauck, Annemarie Poustka, Jiannis Ragoussis, Anthony Bailey, Anthony P. Monaco

    Publicado 2008
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  8. 8
    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies por Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays

    Publicado 2011
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  9. 9
    Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

    Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders por Alistair T. Pagnamenta, Yoshiko Murakami, John Taylor, Consuelo Anzilotti, Malcolm F. Howard, Venessa Miller, Diana Johnson, Shereen Tadros, Sahar Mansour, I. Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C. Taylor, Usha Kini

    Publicado 2017
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  10. 10
    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom por Katharina Schwarze, James Buchanan, Jilles M. Fermont, Hélène Dreau, Mark Tilley, John Taylor, Pavlos Antoniou, Samantha J.L. Knight, Carme Camps, Melissa M. Pentony, Erika Kvikstad, Steve Harris, Niko Popitsch, Alistair T. Pagnamenta, Anna Schuh, Jenny C. Taylor, Sarah Wordsworth

    Publicado 2019
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  11. 11
    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn por Stéphanie Efthymiou, Luiz Eduardo Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz Felipe Rocha Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Hélio Afonso Ghizoni Teive, Henry Houlden

    Publicado 2023
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  12. 12
    Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

    Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Lef... por Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Elizabeth Ormondroyd, Alistair T. Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate Thomson, Linda Arnold, S.D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich

    Publicado 2016
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  13. 13
    Sequencing of human genomes with nanopore technology

    Sequencing of human genomes with nanopore technology por Rory Bowden, R. W. Davies, Andreas Heger, Alistair T. Pagnamenta, Mariateresa de Cesare, Laura Oikkonen, Duncan Parkes, Colin Freeman, Fatima Dhalla, Smita Y. Patel, Niko Popitsch, Camilla L. C. Ip, Hannah Roberts, Silvia Salatino, Helen Lockstone, Gerton Lunter, Jenny C. Taylor, David Buck, Michael A. Simpson, Peter Donnelly

    Publicado 2019
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  14. 14
    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome por Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill

    Publicado 2015
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  15. 15
    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation por Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer‐Haas, Björn Fischer‐Zirnsak, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne B. Mitchell, Stefan Mundlos, John A. Phillips, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter Krawitz

    Publicado 2014
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  16. 16
    High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

    High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility por Elena Maestrini, Alistair T. Pagnamenta, Janine A. Lamb, Elena Bacchelli, Nuala Sykes, Inês Sousa, Claudio Toma, Gabrielle Barnby, Helen Butler, Laura Winchester, Thomas Scerri, Fiorella Minopoli, Jennifer Reichert, Guiqing Cai, Joseph D. Buxbaum, Olena Korvatska, Gerry Schellenberg, Géraldine Dawson, Annelies de Bildt, Ruud B. Minderaa, E Mulder, Andrew P. Morris, Anthony Bailey, Anthony P. Monaco

    Publicado 2009
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  17. 17
    Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

    Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies por Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, Taroh Kinoshita, Malcolm F. Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha J.L. Knight, Niko Popitsch, David A. Keays, Consuelo Anzilotti, Anne Goriely, Leigh B. Waddell, Fabienne Brilot, Kathryn N. North, Noriyuki Kanzawa, Daniel G. MacArthur, Jenny C. Taylor, Usha Kini, Yoshiko Murakami, Nigel F. Clarke

    Publicado 2015
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  18. 18
    A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at<i>DPYD</i>and a putative role for<i>ENOSF1</i>rather than<i>TYMS</i>

    A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at<i>DPYD</i>and a putative role for<i>ENOSF1</i>rather than<i>TYMS</i... por Dan Rosmarin, Claire Palles, Alistair T. Pagnamenta, Kulvinder Kaur, Guillermo Pita, Miguel Martín, Enric Domingo, Angela Jones, Kimberley Howarth, Luke Freeman-Mills, Elaine Johnstone, Haitao Wang, Sharon Love, Claire Scudder, Patrick Julier, Ceres Fernández–Rozadilla, Clara Ruíz-Ponte, Ángel Carracedo, Sergi Castellví‐Bel, Antoni Castells, Anna González‐Neira, Jenny C. Taylor, Rachel Kerr, David Kerr, Ian Tomlinson

    Publicado 2014
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  19. 19
    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

    Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice por Alistair T. Pagnamenta, Pierre Heemeryck, Hilary C. Martin, Christophe Bosc, Leticia Peris, Ivy Uszynski, Sylvie Gory‐Fauré, Simon Couly, Charu Deshpande, Ata Siddiqui, Alaa A. Elmonairy, Sandeep Jayawant, Sarada Murthy, Ian Walker, Lucy Loong, Peter Bauer, Frédérique Vossier, Éric Denarier, Tangui Maurice, Emmanuel Barbier, Jean‐Christophe Deloulme, Jenny C. Taylor, Edward Blair, Annie Andrieux, Marie‐Jo Moutin

    Publicado 2019
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  20. 20
    Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

    Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia por Alistair T. Pagnamenta, Elena Bacchelli, Maretha Jonge, Ghazala Mirza, Thomas Scerri, Fiorella Minopoli, Andreas G. Chiocchetti, Kerstin U. Ludwig, Per Hoffmann, Silvia Paracchini, Ernesto Lowy, Denise Harold, Jade Chapman, Sabine M. Klauck, Fritz Poustka, Renske H. Houben, Wouter Staal, Roel A. Ophoff, Michael O’Donovan, Julie Williams, Markus M. Nöthen, Gerd Schulte‐Körne, Panos Deloukas, Jiannis Ragoussis, Anthony Bailey, Elena Maestrini, Anthony P. Monaco

    Publicado 2010
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