Concepedia

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

Angelo Valetto, Alessandro Orsini, Veronica Bertini, Benedetta Toschi, Alice Bonuccelli, Francesca Simi, Irene Sammartino, Grazia Taddeucci, Paolo Simi, Giuseppe Saggese

European Journal of Medical Genetics · 2012 · 68 citations · 11 references

DOI

Concepts

References

11

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle, Frédérique Béna, Sarantis Gagos et al. · European Journal of Human Genetics · 2008 · 327 citations

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Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

Rikke S. Møller, Sabine Kübart, Maria Hoeltzenbein et al. · The American Journal of Human Genetics · 2008 · 165 citations · Full text

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Impaired Spatial Learning Strategies and Novel Object Recognition in Mice Haploinsufficient for the Dual Specificity Tyrosine-Regulated Kinase-1A (Dyrk1A)

Glòria Arqué, Vassiliki Fotaki, David Fernández et al. · PLoS ONE · 2008 · 97 citations · Full text

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Detailed molecular and clinical characterization of three patients with 21q deletions

Anna Lindstrand, H Malmgren, Sigrid Sahlén et al. · Clinical Genetics · 2009 · 65 citations · Full text

, , +17

Clinical manifestations of the deletion of Down syndrome critical region including <i>DYRK1A</i> and <i>KCNJ6</i>

Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa et al. · American Journal of Medical Genetics Part A · 2010 · 54 citations

, , +17