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PLoS Genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, pp. e1000650 - 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 | Index Medicus | Proteins | Video recordings | Colleges & universities | Birth defects | Mutation | Behavior | Experiments | Chromosomes | DNA repair
Journal Article
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Index Medicus | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 636 - 651
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,... 
SISTER-CHROMATID COHESION | INDIVIDUALS | MEDICINE, RESEARCH & EXPERIMENTAL | HYPERTRICHOSIS-CUBITI | VARIANTS | GENETIC-HETEROGENEITY | ACTIVATOR PROTEIN | MUTATIONS | IDENTIFICATION | HUMAN HOMOLOG | NIPBL REARRANGEMENTS | Myeloid-Lymphoid Leukemia Protein - biosynthesis | Histone Deacetylases - biosynthesis | Chondroitin Sulfate Proteoglycans - genetics | Humans | Transcriptome | Child, Preschool | Exonucleases | Infant | Male | Gene Expression Profiling | Exome | De Lange Syndrome - metabolism | Chromosomal Proteins, Non-Histone - biosynthesis | Cell Cycle Proteins - genetics | Adult | Chondroitin Sulfate Proteoglycans - biosynthesis | Child | De Lange Syndrome - genetics | Genome-Wide Association Study | Histone Deacetylases - genetics | Histone-Lysine N-Methyltransferase | Gene Expression Regulation | Repressor Proteins - genetics | Cell Cycle Proteins - biosynthesis | Codon, Nonsense | Chromosomal Proteins, Non-Histone - genetics | Proteins - genetics | Phenotype | Proteins - metabolism | Repressor Proteins - biosynthesis | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heterozygote | De Lange Syndrome - pathology | De Lange syndrome | Gene mutations | Exome sequencing | Genetic research | Development and progression | Genetic transcription | Research | Diagnosis | Identification and classification | Methods | Proteins | Studies | Genotype & phenotype | Genomics | Zebrafish | Genomes | Mutation | Chromosomes | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 485 - 494
Journal Article