Mutational, functional, and expression studies of the TCF4 gene in pitt-hopkins syndrome

Human Mutation

Volumn 30, Issue 4, 2009, Pages 669-676

  De Pontual, Loic ^a   Mathieu, Yves ^a   Golzio, Christelle ^a   Rio, Marlene ^b   Malan, Valerie ^a   Boddaert, Nathalie ^b   Soufflet, Christine ^b   Picard, Capucine ^b,c   Durandy, Anne ^b   Dobbie, Angus ^d   Heron, Delphine ^e   Isidor, Bertrand ^f   Motte, Jacques ^g   Newburry Ecob, Ruth ^h   Pasquier, Laurent ⁱ   Tardieu, Marc ^j   Viot, Geraldine ^k   Jaubert, Francis ^b   Munnich, Arnold ^a,b   Colleaux, Laurence ^a   Vekemans, Michel ^a,b   Etchevers, Heather ^a   Lyonnet, Stanislas ^a,b   Amiel, Jeanne ^a,b   more..

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HÔTEL DIEU   (France)

^g AMERICAN MEMORIAL HOSPITAL   (France)

^h Department of Clinical Genetics ^*  (United Kingdom)

ⁱ SERVICE DE RHUMATOLOGIE   (France)

^j BICÊTRE HOSPITAL   (France)

^k Hôpital Cochin ^*  (France)

more..

Author keywords

bHLH; E protein; mental retardation; Pitt Hopkins; TCF4

Indexed keywords

PROTEIN TCF4; T CELL FACTOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROENCEPHALOGRAPHY; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PITT HOPKINS SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIMERIZATION; DNA-BINDING PROTEINS; ELECTROENCEPHALOGRAPHY; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HELA CELLS; HUMANS; HYPERVENTILATION; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INFANT; LUCIFERASES; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 63749123537     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20935     Document Type: Article

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