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

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	Year	Citations
Online Mendelian Inheritance in Man 'OMIM'. Sangeeta Amladi PubMed Mendelian DisorderHuman OriginAnthropologyMendelian InheritanceOnline Mendelian Inheritance	2007	870
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, Nature Genetics Genome InstabilityDevelopmental BiologyGenetic DisorderGeneticsLange Syndrome	2004	715
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 Dna AnalysisMolecular BiologyDna HeteroduplexesSolvent-induced BendsPolymerase Chain Reaction	1993	677
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, Nature Genetics Genome InstabilityCell DivisionGenetic DisorderGeneticsLange Syndrome	2004	594
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
<i>Drosophila</i> Nipped-B Protein Supports Sister Chromatid Cohesion and Opposes the Stromalin/Scc3 Cohesion Factor To Facilitate Long-Range Activation of the <i>cut</i> Gene Robert A. Rollins, Maria Korom, Nathalie Aulner, Molecular and Cellular Biology	2004	219
Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization Ian D. Krantz, Elizabeth B. Rand, Anna Genin, American Journal of Medical Genetics	1997	116
Brachmann‐de Lange syndrome. Delineation of the clinical phenotype Mark Ireland, Dian Donnai, John Burn American Journal of Medical Genetics	1993	112
Clinical variability within Brachmann‐de Lange syndrome: A proposed classification system Margot I. Van Allen, Giorgio Filippi, Jacqueline Siegel‐Bartelt, American Journal of Medical Genetics	1993	94
Growth manifestations in the Brachmann‐de Lange syndrome Antonie D. Kline, Marie Barr, Laird G. Jackson American Journal of Medical Genetics	1993	88

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