Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

Human Genetics

Volumn 134, Issue 11-12, 2015, Pages 1163-1182

  Ishibashi, Minaka ^a   Manning, Elizabeth ^a   Shoubridge, Cheryl ^b   Krecsmarik, Monika ^c   Hawkins, Thomas A ^d   Giacomotto, Jean ^a   Zhao, Ting ^a,e   Mueller, Thomas ^f   Bader, Patricia I ^g   Cheung, Sau W ^h   Stankiewicz, Pawel ^h   Bain, Nicole L ⁱ   Hackett, Anna ^i,j   Reddy, Chilamakuri C S ^k,l   Mechaly, Alejandro S ^a,m   Peers, Bernard ⁿ   Wilson, Stephen W ^d   Lenhard, Boris ^k,o,p   Bally Cuif, Laure ^c   Gecz, Jozef ^b,q   Becker, Thomas S ^a   Rinkwitz, Silke ^a   more..

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c CNRS   (France)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ZHENGZHOU UNIVERSITY   (China)

^f KANSAS STATE UNIVERSITY   (United States)

^g Parkview Cytogenetics and Northeast Indiana Genetics   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ JOHN HUNTER HOSPITAL   (Australia)

^j UNIVERSITY OF NEWCASTLE   (Australia)

^k UNIVERSITY OF BERGEN   (Norway)

^l OSLO UNIVERSITY HOSPITAL   (Norway)

^m INSTITUTO DE INVESTIGACIONES BIOTECNOLÓGICAS   (Argentina)

ⁿ UNIVERSITY OF LIÈGE   (Belgium)

^o IMPERIAL COLLEGE LONDON   (United Kingdom)

^p MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

^q WOMEN S AND CHILDREN S HOSPITAL   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARISTALESS RELATED HOMEOBOX TRANSCRIPTION FACTOR; HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; ARX PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOREGULATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EMBRYO; GENE DUPLICATION; GENE LOCUS; HUMAN; INTELLECTUAL IMPAIRMENT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; ADULT; ANIMAL; BRAIN; CASE CONTROL STUDY; EMBRYOLOGY; FEMALE; GENE DOSAGE; GENE EXPRESSION REGULATION; GENETICS; MALE; METABOLISM; NONMAMMALIAN EMBRYO; TRANSGENIC ANIMAL; ZEBRA FISH;

ADULT; ANIMALS; ANIMALS, GENETICALLY MODIFIED; BRAIN; CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; EMBRYO, NONMAMMALIAN; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMEODOMAIN PROTEINS; HUMANS; INTELLECTUAL DISABILITY; MALE; TRANSCRIPTION FACTORS; ZEBRAFISH;

EID: 84946483775     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1594-x     Document Type: Article

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