CdLS Research Articles

Below are links to summaries of CdLS and CdLS-related research articles, listed in order of publication year. Copies of many of these articles are available from the Foundation (email outreach@CdLSusa.). Please check back periodically for additions to this list.

2007

• Cornelia de Lange Syndrome: Clinical Review, Diagnostic and Scoring Systems, and Anticipatory Guidance
• Natural History of Aging in Cornelia de Lange Syndrome
• The Behavioral Phenotype of Cornelia de Lange Syndomre: A Study of 56 Individuals
• Mutations in cohesin complex members Smc3 and Smc1a cause a mild variant of Cornelia de Lange Syndrome with predominant mental retardation
• Infant attentional behaviours as prognostic indicators in Cornelia de Lange Syndrome
• Cohesin-dependent regulation of Runx genes

2006

• X-linked Cornelia de Lange Syndrome owning to SMC1L1 mutation.
• Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes
• Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance

2005

• Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila

2004

• Cornelia de Lange Syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
• Drosophila Nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene
• Aherin: Key to the cohesin ring and Cornelia de Lange Syndrome

1999

• Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes