Hakutulokset - Elena Maestrini

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  1. 1
    An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

    An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray Tekijä Elena Bacchelli, Cinzia Cameli, Marta Viggiano, Roberta Igliozzi, Alice Mancini, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini

    Julkaistu 2020
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  2. 2
    A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

    A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families Tekijä Elena Maestrini, Bernhard Korge, Juan Ocaña-Sierra, Elisa Calzolari, Stefano Cambiaghi, P Scudder, Alain Hovnanian, Anthony P. Monaco, Colin S. Munro

    Julkaistu 1999
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  3. 3
    A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor.

    A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Tekijä Elena Maestrini, Luca Tamagnone, Paola Longati, Ottavio Cremona, Massimo Gulisano, Silvia Bione, Filippo Tamanini, Benjamin G. Neel, Daniela Toniolo, Paolo M. Comoglio

    Julkaistu 1996
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  4. 4
    A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

    A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder Tekijä Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D’Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini

    Julkaistu 2014
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  5. 5
    A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12

    A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 Tekijä Julian E. Asher, Janine A. Lamb, Denise Brocklebank, Jean‐Baptiste Cazier, Elena Maestrini, Laura Addis, Mallika Sen, Simon Baron‐Cohen, Anthony P. Monaco

    Julkaistu 2009
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  6. 6
    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 Tekijä 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

    Julkaistu 2009
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  7. 7
    A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia

    A Quantitative-Trait Locus on Chromosome 6p Influences Different Aspects of Developmental Dyslexia Tekijä Simon E. Fisher, Angela J. Marlow, Janine A. Lamb, Elena Maestrini, Dianne F. Williams, A.J. Richardson, Daniel E. Weeks, John Stein, Anthony P. Monaco

    Julkaistu 1999
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  8. 8
    MET and autism susceptibility: family and case–control studies

    MET and autism susceptibility: family and case–control studies Tekijä Inês Sousa, Taane G. Clark, Claudio Toma, Kazuhiro Kobayashi, Maja K. Choma, Richard Holt, Nuala Sykes, Janine A. Lamb, Anthony Bailey, Agatino Battaglia, Elena Maestrini, Anthony P. Monaco

    Julkaistu 2008
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  9. 9
    Linkage and candidate gene studies of autism spectrum disorders in European populations

    Linkage and candidate gene studies of autism spectrum disorders in European populations Tekijä Richard Holt, Gabrielle Barnby, Elena Maestrini, Elena Bacchelli, Denise Brocklebank, Inês Sousa, Erik J. Mulder, Katri Kantojärvi, Irma Järvelä, Sabine M. Klauck, Fritz Poustka, Anthony Bailey, Anthony P. Monaco

    Julkaistu 2010
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  10. 10
    Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

    Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene Tekijä Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Florencia Vega-Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda, Rita Chessa, Elena Maestrini, Giuseppe Doneddu, Patrizia Zavattari

    Julkaistu 2019
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  11. 11
    Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

    Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates Tekijä Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali Jane Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valério Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli

    Julkaistu 2024
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  12. 12
    Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients

    Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients Tekijä Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, Elena Maestrini, Marco Seri, G. Cara Romeo

    Julkaistu 2014
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  13. 13
    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 Tekijä 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

    Julkaistu 2009
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  14. 14
    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 Tekijä 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

    Julkaistu 2010
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  15. 15
    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q Tekijä Elena Bonora, Janine A. Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S. Beyer, Sabine M. Klauck, F. Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brøndum‐Nielsen, R. M. J. Cotterill, Herman von Engeland, Maretha Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick Bolton, Jeremy Parr, Annemarie Poustka, Anthony Bailey, Anthony P. Monaco

    Julkaistu 2004
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  16. 16
    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders Tekijä Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Råstam, Henrik Anckarsäter, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Béatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P. Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David Collier, Patrick Bolton, Andreas G. Chiocchetti, Sabine M. Klauck, Fritz Poustka, Christine M. Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana Filipa Sequeira, Bárbara Oliveira, Astrid M. Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W. Scherer, Diana Zélénika, Marc Delépine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie–Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

    Julkaistu 2012
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  17. 17
    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments Tekijä Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kévin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Råstam, I. Carina Gillberg, Gudrun Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galán, Delphine Héron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiésa, François Rivier, Dominique Bonneau, Béatrice Regnault, Diana Zélénika, Marc Delépine, Mark Lathrop, Damien Sanlaville, Caroline Schluth–Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeißer, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

    Julkaistu 2014
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  18. 18
    Disruption at the <i>PTCHD1</i> Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

    Disruption at the <i>PTCHD1</i> Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Tekijä Abdul Noor, Annabel Whibley, Christian R. Marshall, Peter J. Gianakopoulos, Amélie Piton, Andrew R. Carson, M Orlic-Milacic, Anath C. Lionel, Daisuke Sato, Dalila Pinto, Irene Drmic, Carolyn Noakes, Lili Senman, Xiaoyun Zhang, Rong Mo, Julie Gauthier, Jennifer Crosbie, Alistair T. Pagnamenta, Jeffrey Munson, Annette Estes, Andreas Fiebig, André Franke, Stefan Schreiber, Alexandre F.R. Stewart, Robert J. Roberts, Ruth McPherson, Stephen J. Guter, Edwin H. Cook, Géraldine Dawson, Gerard D. Schellenberg, Agatino Battaglia, Elena Maestrini, Linda Jo Bone Jeng, Terry Hutchison, Evica Rajcan‐Separovic, Albert E. Chudley, M. E. Suzanne Lewis, Xudong Liu, J.J.A. Holden, Bridget A. Fernandez, Lonnie Zwaigenbaum, Susan E. Bryson, Wendy Roberts, Peter Szatmari, Louise Gallagher, Michael R. Stratton, Jozef Gécz, Angela F. Brady, Charles E. Schwartz, Russell Schachar, Anthony P. Monaco, Guy A. Rouleau, Chi‐chung Hui, F. Lucy Raymond, Stephen W. Scherer, John B. Vincent

    Julkaistu 2010
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  19. 19
    A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

    A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium Tekijä Anthony Bailey, Amaia Hervás, Nicola Matthews, Sarah Palferman, Simon Wallace, Anne Aubin, Janine Michelotti, Catherine Wainhouse, Katerina Papanikolaou, Michael Rutter, Elena Maestrini, Angela J. Marlow, Daniel E. Weeks, Janine A. Lamb, Clyde Francks, Georgina Kearsley, P Scudder, Anthony P. Monaco, Gillian Baird, Anthony D. Cox, Helen Cockerill, Fleming Nuffield, Ann Le Couteur, T. P. Berney, Hayley Cooper, Tom Kelly, Jonathan Green, Jane Whittaker, Anne Gilchrist, Patrick Bolton, Anne Schönewald, M. G. Daker, Caroline Mackie Ogilvie, Zoe Docherty, Zandra C. Deans, Bryan J. Bolton, Ros Packer, Fritz Poustka, D. Rühl, Gabriele Schmötzer, Sven Bölte, Sabine M. Klauck, Anja Spieler, Annemarie Poustka, Hermán van Engeland, Chantal Kemner, Maretha Jonge, Ineke Den Hartog, Catherine Lord, Edwin H. Cook, Bennett Leventhal, Fred R. Volkmar, David L. Pauls, Ami Klin, Susan L. Smalley, Éric Fombonne, Bernadette Rogé, M. Tauber, Evelyne Arti-Vartayan, Jeanne Fremolle-Kruck., Lennart Pederson, Demetrious Haracopos, Karen Brøndum‐Nielsen, R. M. J. Cotterill

    Julkaistu 1998
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  20. 20
    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Tekijä Jillian P. Casey, Tiago R. Magalhães, Judith Conroy, Regina Regan, Naisha Shah, Richard Anney, Denis C. Shields, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Patrick Bolton, Thomas Bourgeron, S. Brennan, Phil Cali, Catarina Correia, Christina Corsello, Marc N. Coutanche, Géraldine Dawson, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, S. Foley, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Richard Holt, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Janine A. Lamb, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Catherine Lord, Sabata C. Lund, Elena Maestrini, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Judith Miller, Fiorella Minopoli, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Gudrun Nygren, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Barbara Parrini, Andrew Pickles, Dalila Pinto, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka, Jiannis Ragoussis, Bernadette Rogé, Michael Rutter, Ana Filipa Sequeira, Latha Soorya, Inês Sousa, Nuala Sykes, Vera Stoppioni, Raffaella Tancredi, M. Tauber, Ann Thompson, Susanne Thomson, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Jacob Vorstman, Simon Wallace, Kai Wang, Thomas H. Wassink, Kathy White, Kirsty Wing

    Julkaistu 2011
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