Concepedia

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Sólveig Óskarsdóttir, Nicole Philip, Kathleen E. Sullivan,

The Journal of Pediatrics · 2011 · 601 citations · 33 references

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References

33

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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Clinical features of 78 adults with 22q11 deletion syndrome

Anne S. Bassett, Eva W.C. Chow, Janice Husted et al. · American Journal of Medical Genetics Part A · 2005 · 491 citations · Full text

, , +10

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Deborah A. Driscoll, J Salvin, Beatrice Sellinger et al. · Journal of Medical Genetics · 1993 · 488 citations · Full text

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Anita Rauch, Juliane Hoyer, Sabine Guth et al. · American Journal of Medical Genetics Part A · 2006 · 445 citations · Full text

, , +17

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