Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Utami, Kagistia H ^a,f   Hillmer, Axel M ^a   Aksoy, Irene ^a   Chew, Elaine G Y ^a   Teo, Audrey S M ^a   Zhang, Zhenshui ^a   Lee, Charlie W H ^a   Chen, Pauline J ^a   Seng, Chan Chee ^a   Ariyaratne, Pramila N ^a   Rouam, Sigrid L ^a   Soo, Lim Seong ^a   Yousoof, Saira ^b,c   Prokudin, Ivan ^b,c   Peters, Gregory ^b   Collins, Felicity ^b   Wilson, Meredith ^b   Kakakios, Alyson ^b   Haddad, Georges ^d   Menuet, Arnaud ^e   Perche, Olivier ^e   Tay, Stacey Kiat Hong ^f   Sung, Ken W K ^a   Ruan, Xiaoan ^a   Ruan, Yijun ^a   Liu, Edison T ^a   Briault, Sylvain ^e   Jamieson, Robyn V ^b   Davila, Sonia ^a   Cacheux, Valere ^a   more..

^a GENOME INSTITUTE OF SINGAPORE   (Singapore)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d CENTRE HOSPITALIER   (France)

^e Laboratoire d'Immunologie et Embryologie Moleculaires Orleans   (France)

^f NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

X LINKED INHIBITOR OF APOPTOSIS;

ARTICLE; AUTISM; BRAIN DEVELOPMENT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FETUS; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MAPPING; GENE STRUCTURE; GENETIC VARIABILITY; GNAQ GENE; HETEROZYGOTE; HUMAN; IMMUNE DEFICIENCY; LANGUAGE DELAY; MALE; NEXT GENERATION SEQUENCING; PATHOGENESIS; PHENOTYPE; RBFOX3 GENE; SEQUENCE ANALYSIS; SPEECH DISORDER; TMEM47 GENE; UNC5D GENE; X CHROMOSOME; XIAP GENE; COPY NUMBER VARIATION; DEVELOPMENTAL LANGUAGE DISORDER; DNA SEQUENCE; FEMALE; GENE TRANSLOCATION; GENETIC ASSOCIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME INVERSION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 84897143694     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0090852     Document Type: Article

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