Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 71-78

  Nava, Caroline ^a,b   Keren, Boris ^a   Mignot, Cyril ^a,b,c,d   Rastetter, Agnès ^a,b   Chantot Bastaraud, Sandra ^c   Faudet, Anne ^a   Fonteneau, Eric ^a   Amiet, Claire ^a   Laurent, Claudine ^a   Jacquette, Aurélia ^a,b,d   Whalen, Sandra ^a   Afenjar, Alexandra ^a,b,c,d   Périsse, Didier ^a   Doummar, Diane ^c   Dorison, Nathalie ^c   Leboyer, Marion ^e,f,g,h   Siffroi, Jean Pierre ^c   Cohen, David ^a,i   Brice, Alexis ^a,b   Héron, Delphine ^a,b,c,d   Depienne, Christel ^a,b   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d Centre de Rèfèrence 'dè Ficiences Intellectuelles de Causes Rares   (France)

^e INSERM U955   (France)

^f FACULTÉ DE MÉDECINE   (France)

^g HENRI MONDOR HOSPITAL   (France)

^h FONDATION FONDAMENTAL   (France)

ⁱ UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

Author keywords

15q11 q12 triplication; autism spectrum disorders; autosomal recessive inheritance; copy number variants; genetic interactions

Indexed keywords

DOCK10 PROTEIN; DOCKING PROTEIN; PROSTAGLANDIN E RECEPTOR 3; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 15Q11 Q12; CHROMOSOME 3Q29 DELETION; CHROMOSOME 9P24; CHROMOSOME DELETION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC TEST; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE INTERACTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PARENT; POINT MUTATION; PRIORITY JOURNAL; PROSPECTIVE STUDY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; CAT CRY SYNDROME; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOME 15; CHROMOSOME 5; COMPARATIVE GENOMIC HYBRIDIZATION; DNA METHYLATION; DNA MICROARRAY; GENETICS; GENOTYPE; INFANT; PATHOLOGY; PRESCHOOL CHILD; PROCEDURES; TRISOMY;

ADOLESCENT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; CRI-DU-CHAT SYNDROME; DNA COPY NUMBER VARIATIONS; DNA METHYLATION; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; TRISOMY;

EID: 84890795915     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.88     Document Type: Article

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