Concepedia

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty,

European Journal of Human Genetics · 2015 · 52 citations · 33 references

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References

33

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

, , +16

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

Loydie A. Jerome, Virginia E. Papaioannou · Nature Genetics · 2001 · 1.1K citations

, , +8

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

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt et al. · The Journal of Pediatrics · 2011 · 601 citations · Full text

, , +15

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

Robert J. Shprintzen, Rosalie Goldberg, Michael L. Lewin et al. · PubMed · 1978 · 598 citations

, , +17

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