Concepedia

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

Cristina Gervasini, Ilaria Parenti, Chiara Picinelli, Jacopo Azzollini, Maura Masciadri, Anna Cereda, Angelo Selicorni, Silvia Russo, Palma Finelli, Lidia Larizza

European Journal of Medical Genetics · 2013 · 25 citations · 19 references

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References

19

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 722 citations · Full text

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Emma Tonkin, Tzu-Jou Wang, Steven Lisgo et al. · Nature Genetics · 2004 · 597 citations

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HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 576 citations · Full text

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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger et al. · The American Journal of Human Genetics · 2007 · 522 citations · Full text

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli et al. · Nature Genetics · 2006 · 478 citations

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