A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Journal of Medical Genetics

Volumn 50, Issue 8, 2013, Pages 543-551

  Di Gregorio, Eleonora ^a   Bianchi, Federico T ^c   Schiavi, Alfonso ^d,e   Chiotto, Alessandra M A ^c   Rolando, Marco ^f   di Cantogno, Ludovica Verdun ^g   Grosso, Enrico ^b   Cavalieri, Simona ^b   Calcia, Alessandro ^a   Lacerenza, Daniela ^a   Zuffardi, Orsetta ^h,i   Retta, Saverio Francesco ^c   Stevanin, Giovanni ^a   Marelli, Cecilia ^j,k   Durr, Alexandra ^j,k   Forlani, Sylvie ^j   Chelly, Jamel ^l   Montarolo, Francesca ^c   Tempia, Filippo ^c   Beggs, Hilary E ^m   Reed, Robin ⁿ   Squadrone, Stefania ^o   Abete, Maria C ^o   Brussino, Alessandro ^a   Ventura, Natascia ^d,e   Di Cunto, Ferdinando ^c   Brusco, Alfredo ^a,b   more..

^a UNIVERSITY OF TURIN   (Italy)

^b SCdU Ematologia   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f SC Neuropsichiatria Infantile ^*  (Italy)

^g SC di Anatomia Patologica Presidio Ospedaliero Umberto I   (Italy)

^h UNIVERSITY OF PAVIA   (Italy)

ⁱ C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

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

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l UNIVERSITÉ PARIS DESCARTES   (France)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ HARVARD MEDICAL SCHOOL   (United States)

^o LIGURIA E VALLE D AOSTA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; COMPLEMENTARY DNA; FOCAL ADHESION KINASE; FOCAL ADHESION KINASE 1; MESSENGER RNA; SMALL INTERFERING RNA; THO COMPLEX SUBUNIT 2; UNCLASSIFIED DRUG;

ANIMAL TISSUE; APOPTOSIS; ARTICLE; ATAXIA; CAENORHABDITIS ELEGANS; CELL ADHESION; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME; CHROMOSOME 8Q; CHROMOSOME 8Q24; CHROMOSOME ANALYSIS; CHROMOSOME XQ; CHROMOSOME XQ25; COGNITIVE DEFECT; CONTROLLED STUDY; DNA EXTRACTION; DNA FLANKING REGION; FEMALE; GENE EXPRESSION; GENE FUSION; GENE MAPPING; GENE SILENCING; GENE TRANSLOCATION; GENETIC TRANSCRIPTION; HIPPOCAMPUS; HUMAN; HUMAN CELL; IN VITRO STUDY; MOUSE; NERVE FIBER GROWTH; NEURAL STEM CELL; NONHUMAN; ORTHOLOGY; PRIORITY JOURNAL; PROMOTER REGION; PSYCHOMOTOR RETARDATION; RNA EXTRACTION; RNA ISOLATION; SCHOOL CHILD; SENSORY NERVE CELL;

RATTUS;

EID: 84883141048     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101542     Document Type: Article

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