Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Clinical Genetics

Volumn 92, Issue 4, 2017, Pages 415-422

  Di Gregorio, E ^a,b   Riberi, E ^c   Belligni, E F ^c   Biamino, E ^c   Spielmann, M ^d   Ala, U ^c,e   Calcia, A ^a   Bagnasco, I ^f   Carli, D ^a   Gai, G ^b   Giordano, M ^g   Guala, A ^h   Keller, R ⁱ   Mandrile, G ^b,j   Arduino, C ^b   Maffe A ^k   Naretto, V G ^b   Sirchia, F ^k   Sorasio, L ^k   Ungari, S ^k   Zonta, A ^b   Zacchetti, G ^b,g   Talarico, F ^b   Pappi, P ^b   Cavalieri, S ^a   Giorgio, E ^a   Mancini, C ^a   Ferrero, M ^a   Brussino, A ^a   Savin, E ^b   Gandione, M ^c   Pelle, A ^a,j   Giachino, D F ^a,j   De Marchi, M ^a,j   Restagno, G ^b   Provero, P ^c,e   Cirillo Silengo, M ^c   Grosso, E ^b   Buxbaum, J D ^l   Pasini, B ^k   De Rubeis, S ^l   Brusco, A ^a,b   Ferrero, G B ^c   more..

^a UNIVERSITY OF TURIN   (Italy)

^b CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e Molecular Biotechnology Center (MBC)   (Italy)

^f Division of Child Neuropsychiatry   (Italy)

^g UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^h Castelli Hospital   (Italy)

ⁱ ASL TO2   (Italy)

^j SAN LUIGI GONZAGA UNIVERSITY HOSPITAL   (Italy)

^k S CROCE E CARLE HOSPITAL   (Italy)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

array CGH; autism spectrum disorder; CNV; developmental delay; genomic disorders; intellectual disability

Indexed keywords

PROTEIN; DNA BINDING PROTEIN; MBD5 PROTEIN, HUMAN;

ADULT; ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; BIOINFORMATICS; BRAIN CORTEX; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DATA MINING; DEVELOPMENTAL DELAY; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC DISORDER; GENOMICS; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; PATHOGENICITY; POSITION EFFECT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM; SYNAPSE; YOUNG ADULT; ADOLESCENT; CHROMOSOME ABERRATION; DEVELOPMENTAL DISORDER; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; PATHOLOGY; PEDIGREE; PHENOTYPE; POSITION EFFECT VARIEGATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL POSITION EFFECTS; CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOMICS; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; YOUNG ADULT;

EID: 85026304485     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13009     Document Type: Article

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