Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
Nyström
Anna-Maja
AM
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden. anna-maja.nystrom@hgen.slu.se
Ekvall
Sara
S
Thuresson
Ann-Charlotte
AC
Denayer
Ellen
E
Legius
Eric
E
Kamali-Moghaddam
Masood
M
Westermark
Bengt
B
Annerén
Göran
G
Bondeson
Marie-Louise
ML
D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D005910:Glioma / Q000378:metabolism; D006801:Humans; D020935:MAP Kinase Signaling System; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D015854:Up-Regulation
D015345:Oligonucleotide Probes