Concepedia

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, Elisa Biamino, Bartolomeo Augello, Carmela Fusco, Maria Giuseppina Turturo, Serena Forzano, Alexandre Reymond, Giuseppe Merla

European Journal of Human Genetics · 2009 · 109 citations · 33 references

DOIFull text

Open access

Concepts

References

33

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Kenneth J. Livak, Thomas D. Schmittgen · Methods · 2001 · 181.5K citations

, , +9

Prevalence Estimation of Williams Syndrome

Petter Strømme, Per G. Bjømstad, Kjersti Ramstad · Journal of Child Neurology · 2002 · 779 citations

, , +15

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Lucy R. Osborne, Martin Li, Barbara R. Pober et al. · Nature Genetics · 2001 · 350 citations · Full text

, , +10

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Mónica Bayés, Luis F. Magano, Nuria Fernández Rivera et al. · The American Journal of Human Genetics · 2003 · 344 citations · Full text

, , +11

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

Martin J. Somerville, Carolyn Β. Mervis, Edwin J. Young et al. · New England Journal of Medicine · 2005 · 315 citations · Full text

, , +16