Associated Papers
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.
Rigotti L et al.
American Journal of Medical Genetics. Part A, 2025
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E et al.
The Journal of Experimental Medicine, 2013
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J et al.
Plos Biology, 2009
19468298 (PubMed )
Supplement: pbio.1000119.s005.pdf
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.
Schoumans J et al.
European Journal of Human Genetics : Ejhg, 2007
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2005
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA et al.
American Journal of Human Genetics, 2004
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