NIPBL rearrangements in Cornelia de Lange syndrome: Evidence for replicative mechanism and genotype-phenotype correlation

Genetics in Medicine

Volumn 14, Issue 3, 2012, Pages 313-322

  Pehlivan, Davut ^a   Hullings, Melanie ^b   Carvalho, Claudia M B ^a   Gonzaga Jauregui, Claudia G ^a   Loy, Elizabeth ^b   Jackson, Laird G ^c   Krantz, Ian D ^b,d   Deardorff, Matthew A ^b,d   Lupski, James R ^a,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

aCGH; CdLS; CNV; genomic rearrangement; NIPBL

Indexed keywords

COHESIN;

ARTICLE; BREAKPOINT JUNCTION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DE LANGE SYNDROME; DNA MICROARRAY; EXON; FEMALE; GENE; GENE DELETION; GENE REARRANGEMENT; GENE REPLICATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; NIPBL GENE; PHENOTYPE;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; DNA REPLICATION; FACIES; FEMALE; GENE DELETION; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTEINS; RECOMBINATION, GENETIC; SEQUENCE ALIGNMENT;

EID: 84857885510     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2011.13     Document Type: Article

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