Concepedia

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples

Karina M. Sørensen, Peter Agergaard, Charlotte Olesen, Paal Skytt Andersen, Lars Allan Larsen, John R. Østergaard, Jan P. Schouten, Michael Christiansen

Journal of Molecular Diagnostics · 2010 · 40 citations · 16 references

DOIFull text

Open access

Concepts

References

16

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

, , +16

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

, , +17

DiGeorge syndrome: part of CATCH 22.

David I. Wilson, John Burn, Peter Scambler et al. · Journal of Medical Genetics · 1993 · 511 citations · Full text

, , +17

A common molecular basis for rearrangement disorders on chromosome 22q11

Lisa Edelmann · Human Molecular Genetics · 1999 · 455 citations

, , +17

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Shay Ben‐Shachar, Zhishuo Ou, Chad A. Shaw et al. · The American Journal of Human Genetics · 2008 · 245 citations · Full text

, , +12