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

PLoS Genetics

Volumn 10, Issue 9, 2014, Pages

  Leblond, Claire S ^a,b,c   Nava, Caroline ^d,e,f   Polge, Anne ^g   Gauthier, Julie ^h   Huguet, Guillaume ^a,b,c   Lumbroso, Serge ^g   Giuliano, Fabienne ⁱ   Stordeur, Coline ^a,b,c,j   Depienne, Christel ^d,e,f   Mouzat, Kevin ^g   Pinto, Dalila ^k   Howe, Jennifer ^l   Lemière, Nathalie ^a,b,c   Durand, Christelle M ^a,b,c   Guibert, Jessica ^a,b,c   Ey, Elodie ^a,b,c   Toro, Roberto ^a,b,c   Peyre, Hugo ^m   Mathieu, Alexandre ^a,b,c   Amsellem, Frédérique ^a,j,n   Rastam, Maria ^o   Gillberg, I Carina ^p   Rappold, Gudrun A ^q   Holt, Richard ^r   Monaco, Anthony P ^r   Maestrini, Elena ^s   Galan, Pilar ^t   Heron, Delphine ^d,e,u   Jacquette, Aurélia ^d,e   Afenjar, Alexandra ^d,e,u   Rastetter, Agnès ^d,e,f   Brice, Alexis ^d,e,f   Devillard, Françoise ^v   Assouline, Brigitte ^w   Laffargue, Fanny ^x   Lespinasse, James ^y   Chiesa, Jean ^z   Rivier, François ^aa,ab   Bonneau, Dominique ^ac,ad   Regnault, Beatrice ^b   Zelenika, Diana ^ae   Delepine, Marc ^ae   Lathrop, Mark ^ae   Sanlaville, Damien ^af   Schluth Bolard, Caroline ^af   Edery, Patrick ^af   Perrin, Laurence ^j   Tabet, Anne Claude ^j   Schmeisser, Michael J ^ag   Boeckers, Tobias M ^ag   Coleman, Mary ^ah   Sato, Daisuke ^l   Szatmari, Peter ^l   Scherer, Stephen W ^l   Rouleau, Guy A ^ai   Betancur, Catalina ^e,aj   Leboyer, Marion ^n,ak,al,am   Gillberg, Christopher ^p,an   Delorme, Richard ^a,b,c,j,n   Bourgeron, Thomas ^a,b,c,n   more..

^a INSTITUT PASTEUR   (France)

^b INSTITUT PASTEUR   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^g NÎMES UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY OF MONTREAL   (Canada)

ⁱ UNIVERSITY HOSPITAL OF NICE   (France)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^l HOSPITAL FOR SICK CHILDREN   (Canada)

^m PSL RESEARCH UNIVERSITY   (France)

ⁿ FONDATION FONDAMENTAL   (France)

^o LUND UNIVERSITY   (Sweden)

^p UNIVERSITY OF GOTHENBURG   (Sweden)

^q UNIVERSITY OF HEIDELBERG   (Germany)

^r UNIVERSITY OF OXFORD   (United Kingdom)

^s UNIVERSITY OF BOLOGNA   (Italy)

^t UNIVERSITÉ PARIS 13   (France)

^u ARMAND TROUSSEAU HOSPITAL   (France)

^v Hospital Couple Enfant   (France)

^w Centre Expert Asperger   (France)

^x UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^y CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^z DEPARTMENT OF NEUROLOGY   (France)

^aa MONTPELLIER UNIVERSITY HOSPITAL   (France)

^ab UNIVERSITY OF MONTPELLIER   (France)

^ac CNRS   (France)

^ad ANGERS UNIVERSITY HOSPITAL   (France)

^ae CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^af UNIVERSITÉ LYON 1   (France)

^ag UNIVERSITY OF ULM   (Germany)

^ah Foundation for Autism Research   (United States)

^ai MCGILL UNIVERSITY   (Canada)

^aj and Centre National de la Recherche Scientifique Unité Mixte de Recherche 8246   (France)

^ak INSERM U955   (France)

^al UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^am HENRI MONDOR HOSPITAL   (France)

^an UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SHANK1; PROTEIN SHANK2; PROTEIN SHANK3; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; NERVE PROTEIN; SHANK2 PROTEIN, HUMAN;

ARTICLE; AUTISM; CLINICAL PRACTICE; COGNITIVE DEFECT; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PENETRANCE; SHANK1 GENE; SHANK2 GENE; SHANK3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; CHILD; COGNITION; GENETICS; META ANALYSIS; MUTATION; NERVE CELL; PHYSIOLOGY; SYNAPSE;

CASE-CONTROL STUDIES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COGNITION; COGNITION DISORDERS; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; NERVE TISSUE PROTEINS; NEURONS; SYNAPSES;

EID: 84907572367     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004580     Document Type: Article

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