Concepedia

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D. Brian Dawson, Erik C. Thorland, Cindy Pham Lorentz, Jennifer Goldstein, Marie McDonald,

The American Journal of Human Genetics · 2003 · 381 citations · 20 references

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20

A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Lorenzo D. Botto, Kristin M. May, Paul M. Fernhoff et al. · PEDIATRICS · 2003 · 693 citations

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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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A common molecular basis for rearrangement disorders on chromosome 22q11

Lisa Edelmann · Human Molecular Genetics · 1999 · 455 citations

, , +17

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Lorraine Potocki, Ken-Shiung Chen, Sung Sup Park et al. · Nature Genetics · 2000 · 424 citations · Full text

, , +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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