Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Human Molecular Genetics

Volumn 22, Issue 16, 2013, Pages 3306-3314

  Van Maldergem, Lionel ^a   Hou, Qingming ^b   Kalscheuer, Vera M ^c   Rio, Marlène ^d   Doco Fenzy, Martine ^e   Medeira, Ana ^f   de Brouwer, Arjan P M ^g   Cabrol, Christelle ^a   Haas, Stefan A ^c   Cacciagli, Pierre ^d,h   Moutton, Sébastien ^d   Landais, Emilie ^e   Motte, Jacques ^e   Colleaux, Laurence ^d   Bonnet, Céline ⁱ   Villard, Laurent ^d,h   Dupont, Juliette ^f   Man, Heng Ye ^b  

^a UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^b Boston University   (United States)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d INSERM   (France)

^e REIMS UNIVERSITY HOSPITAL   (France)

^f HOSPITAL DE SANTA MARIA   (Portugal)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h AIX MARSEILLE UNIVERSITY   (France)

ⁱ UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SMALL INTERFERING RNA;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTISM; BRAIN FUNCTION; BRAIN NERVE CELL; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPULSION; CONTROLLED STUDY; DENDRITE; DEVELOPMENTAL LANGUAGE DISORDER; DISEASE SEVERITY; EMBRYO; EXOME; FACE DYSMORPHIA; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE SILENCING; GROWTH RETARDATION; HIPPOCAMPUS; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; KIAA2022 GENE; LOSS OF FUNCTION MUTATION; LYMPHOCYTE; MALE; MEDICAL HISTORY; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NERVE FIBER; NERVE FIBER GROWTH; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; RAT; SCHOOL CHILD; STRABISMUS; X LINKED INTELLECTUAL DISABILITY; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; ANIMALS; BRAIN; CELLS, CULTURED; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; GENE KNOCKDOWN TECHNIQUES; GENES, X-LINKED; GENETIC LINKAGE; GENETIC VARIATION; HUMANS; INTELLECTUAL DISABILITY; MALE; NEURITES; RATS; SEQUENCE ANALYSIS, RNA; YOUNG ADULT;

EID: 84881227964     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt187     Document Type: Article

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