Concepedia

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, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline,

The American Journal of Human Genetics · 2007 · 522 citations · 27 references

DOIFull text

Open access

Concepts

References

27

CDC growth charts: United States.

Robert J. Kuczmarski, Cynthia L. Ogden, Laurence M. Grummer‐Strawn et al. · PubMed · 2000 · 5.2K citations

, , +17

Predicting Coiled Coils from Protein Sequences

Andrei N. Lupas, Marc Van Dyke, Jeff Stock · Science · 1991 · 4K citations

, , +15

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

, , +11

Online Mendelian Inheritance in Man 'OMIM'.

Sangeeta Amladi · PubMed · 2007 · 870 citations · Full text

, , +13

Cohesin's Binding to Chromosomes Depends on a Separate Complex Consisting of Scc2 and Scc4 Proteins

Rafal Ciosk, Masaki Shirayama, Anna Shevchenko et al. · Molecular Cell · 2000 · 780 citations · Full text

, , +12