Concepedia

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

Erica H. Gerkes, Anne-Marie Van Der Kevie-Kersemaekers, Mariam Yakin, Dominique Smeets, Conny M.A. van Ravenswaaij‐Arts

European Journal of Medical Genetics · 2009 · 87 citations · 13 references

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13

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid et al. · Nature Genetics · 2004 · 608 citations

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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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Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 397 citations

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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Hugo Vega, Quinten Waisfisz, Miriam Gordillo et al. · Nature Genetics · 2005 · 385 citations

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Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation

Birgitt Schüle, Angélica Oviedo, Kathreen Johnston et al. · The American Journal of Human Genetics · 2005 · 147 citations · Full text

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