Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

European Journal of Human Genetics

Volumn 23, Issue 12, 2015, Pages 1694-1701

  Torrico, Bàrbara ^a,b   Fernàndez Castillo, Noèlia ^a,b   Hervás, Amaia ^c,d   Milà, Montserrat ^b,e   Salgado, Marta ^c,d   Rueda, Isabel ^d   Buitelaar, Jan K ^f,g   Rommelse, Nanda ^f,g   Oerlemans, Anoek M ^f,g   Bralten, Janita ^f   Freitag, Christine M ^h   Reif, Andreas ^h   Battaglia, Agatino ⁱ   Mazzone, Luigi ^j   Maestrini, Elena ^k   Cormand, Bru ^a,b   Toma, Claudio ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL MÚTUA DE TERRASSA   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e HOSPITAL CLÍNIC   (Spain)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^h GOETHE UNIVERSITY   (Germany)

ⁱ DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^k UNIVERSITY OF BOLOGNA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; MEMBRANE PROTEIN; PTCHD1 PROTEIN, HUMAN;

ALLELE; ARTICLE; AUTISM; BINDING SITE; CAUCASIAN; CONTROLLED STUDY; EUROPEAN; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROMOTER REGION; PTCHD1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRINUCLEOTIDE REPEAT; CASE CONTROL STUDY; GENETICS; METABOLISM; MISSENSE MUTATION; TUMOR CELL LINE;

AUTISM SPECTRUM DISORDER; CASE-CONTROL STUDIES; CELL LINE, TUMOR; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; TRINUCLEOTIDE REPEATS;

EID: 84948713126     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.37     Document Type: Article

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