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Human molecular genetics, ISSN 0964-6906, 1992
Journal
PLoS genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, p. e1000650
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL... 
SISTER-CHROMATID COHESION | CONTROL REGION | ENHANCER-BLOCKING ACTIVITY | NIPPED-B | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | GENE-EXPRESSION | ADIPOCYTE DIFFERENTIATION | OPHTHALMOLOGIC FINDINGS | BRACHMANN-DELANGE SYNDROME | MICE LACKING | Bone and Bones - pathology | Cadherins - metabolism | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Organ Specificity - genetics | Nervous System Malformations - physiopathology | Sister Chromatid Exchange | Craniofacial Abnormalities - pathology | Transcription, Genetic | Cadherins - genetics | Nervous System Malformations - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | De Lange Syndrome - genetics | Disease Models, Animal | Animals, Newborn | Embryo, Mammalian - pathology | De Lange Syndrome - physiopathology | Gene Expression Regulation | Heart Defects, Congenital - pathology | Bone Development | Transcription Factors - genetics | Mutation - genetics | Embryo, Mammalian - abnormalities | Phenotype | Animals | Heart Defects, Congenital - complications | Nervous System Malformations - complications | Survival Analysis | De Lange Syndrome - complications | Heterozygote | Heart Defects, Congenital - physiopathology | Mice | Bone and Bones - abnormalities | De Lange Syndrome - pathology | Proteins | Video recordings | Colleges & universities | Birth defects | Mutation | Behavior | Experiments | Chromosomes | DNA repair
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2017, Volume 76, Issue 5, pp. 869 - 877
Journal Article
American journal of human genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 550 - 560
Journal Article
Journal Article
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 10, pp. 1147 - 1151
The cohesin complex is at the heart of many chromosomal activities, including sister chromatid cohesion and transcriptional regulation(1-3). Cohesin loading... 
YEAST CHROMOSOMES | XENOPUS EGG EXTRACTS | NIPPED-B | RSC | REPLICATION | REMODELING COMPLEX | GENES | GENETICS & HEREDITY | IDENTIFICATION | SACCHAROMYCES-CEREVISIAE | GENOME | Abnormalities, Multiple - metabolism | Chromatin - metabolism | Oligonucleotide Array Sequence Analysis | Chromatids - genetics | Face - abnormalities | Humans | Gene Expression Profiling | Promoter Regions, Genetic - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Chromatids - metabolism | Micrognathism - metabolism | Chromosomes, Fungal - metabolism | De Lange Syndrome - metabolism | Hand Deformities, Congenital - metabolism | Abnormalities, Multiple - genetics | De Lange Syndrome - genetics | Gene Expression Regulation, Fungal | Chromosomal Proteins, Non-Histone - metabolism | Micrognathism - genetics | Nucleosomes - metabolism | Nucleosomes - genetics | Binding Sites - genetics | Neck - abnormalities | Saccharomyces cerevisiae Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Chromosomes, Fungal - genetics | Hand Deformities, Congenital - genetics | Transcription Initiation Site | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Chromatin - genetics | Genetic research | Nucleosomes | Genetic transcription | Research | Sister chromatid exchange | Proteins | Medical research | Chromatin | Transcription factors | Yeast | Laboratories | Genomes | RNA polymerase | Gene expression | Binding sites | Deoxyribonucleic acid--DNA | Recruitment
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2009, Volume 106, Issue 14, pp. 5842 - 5847
Journal Article