Concepedia

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

Francesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Chiara Fallerini, Laura Dosa, Chiara Di Marco, Giulia Carignani, Margherita Baldassarri, Paola Cianci,

Brain and Development · 2014 · 39 citations · 10 references

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References

10

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 350 citations · Full text

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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele et al. · The American Journal of Human Genetics · 2012 · 267 citations · Full text

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

, , +10

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 228 citations · Full text

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