Associated Papers
Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome.
Krawczynska N et al.
Frontiers in Pediatrics, 2019
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M et al.
Journal of Medical Genetics, 2014
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A et al.
Journal of Applied Genetics, 2013
Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP et al.
American Journal of Medical Genetics. Part A, 2012
Transcriptional dysregulation in NIPBL and cohesin mutant human cells.
Liu J et al.
Plos Biology, 2009
19468298 (PubMed )
Supplement: pbio.1000119.s005.pdf
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
Yan J et al.
American Journal of Medical Genetics. Part A, 2006
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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