Concepedia

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

Sintia I. Nogueira, April M. Hacker, Fernanda T.S. Bellucco, Denise Maria Christofolini, Leslie Domenici Kulikowski, Mirlene Cecília Soares Pinho Cernach, Beverly S. Emanuel, Maria Isabel Melaragno

European Journal of Medical Genetics · 2008 · 20 citations · 13 references

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Concepts

References

13

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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The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

Donna M. McDonald‐McGinn, Richard E. Kirschner, Elizabeth Goldmuntz et al. · PubMed · 1999 · 441 citations

, , +13

Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome

Lisa Edelmann, Raj K. Pandita, Bernice E. Morrow · The American Journal of Human Genetics · 1999 · 377 citations · Full text

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Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

Christine Carlson, Howard I. Sirotkin, Raj K. Pandita et al. · The American Journal of Human Genetics · 1997 · 363 citations · Full text

, , +17

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Sulagna C. Saitta, Stacy E. Harris, Ann P. Gaeth et al. · Human Molecular Genetics · 2003 · 147 citations · Full text

, , +17