Concepedia

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson,

The American Journal of Human Genetics · 2004 · 312 citations · 25 references

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25

Online Mendelian Inheritance in Man 'OMIM'.

Sangeeta Amladi · PubMed · 2007 · 870 citations

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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 · 715 citations · Full text

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

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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 · 594 citations · Full text

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Nipped-B, a Drosophila Homologue of Chromosomal Adherins, Participates in Activation by Remote Enhancers in the cut and Ultrabithorax Genes

Robert A. Rollins, Patrick Morcillo, Dale Dorsett · Genetics · 1999 · 303 citations · Full text