Concepedia

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

M Beaujard, Sandra Chantot‐Bastaraud, M Dubois, Boris Keren, Wassila Carpentier, Philippe Mabboux, Sandra Whalen, M Vodovar, Jean‐Pierre Siffroi, Marie‐France Portnoï

European Journal of Medical Genetics · 2009 · 34 citations · 27 references

DOI

Concepts

References

27

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

Elizabeth A. Lindsay, Francesca Vitelli, Hong Hua Su et al. · Nature · 2001 · 1K citations

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Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 880 citations

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Tamim H. Shaikh · Human Molecular Genetics · 2000 · 531 citations

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A common molecular basis for rearrangement disorders on chromosome 22q11

Lisa Edelmann · Human Molecular Genetics · 1999 · 455 citations

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<i>Tbx1</i> haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome

Richard Paylor, Beate Glaser, Annalisa Mupo et al. · Proceedings of the National Academy of Sciences · 2006 · 390 citations · Full text

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