NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation - Pehlivan, Davut; Hullings, Melanie; Carvalho, Claudia M.B.; Gonzaga-Jauregui, Claudia G.; Loy, Elizabeth; Jackson, Laird G.; Krantz, Ian D.; Deardorff, Matthew A.; Lupski, James R. (Genetics in medicine, 2012)
Keywords: 631/208/212; 631/208/737/1505; 692/699/375; Adolescent; Base Sequence; Biomedical and Life Sciences; Biomedicine; Breakpoints; Cell Cycle Proteins; Child; Child, Preschool; Chromosome Breakpoints; cohesin; Comparative Genomic Hybridization; Congenital defects; copy number; De Lange Syndrome - genetics; DNA microarrays; DNA Replication; Etiology; Exons; Facies; Female; Gene Deletion; Gene Order; Genetic Association Studies; genomics; haploinsufficiency; Hirsutism; Human Genetics; Humans; Hybridization analysis; Infant; Laboratory Medicine; Limbs; Male; Mental retardation; Molecular Sequence Data; Mutation; original-research-article; Phenotype; Proteins - genetics; Recombination, Genetic; Replication; Sequence Alignment; sister chromatids; genomic rearrangement; CNV; aCGH; CdLS