title: Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
authors.affiliation: Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden. anna-maja.nystrom@hgen.slu.se
authors.forename: Anna-Maja
authors.initials: AM
authors.lastname: Nyström
authors.forename: Sara
authors.initials: S
authors.lastname: Ekvall
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
authors.forename: Ellen
authors.initials: E
authors.lastname: Denayer
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
authors.forename: Masood
authors.initials: M
authors.lastname: Kamali-Moghaddam
authors.forename: Bengt
authors.initials: B
authors.lastname: Westermark
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Bondeson
mesh_terms: 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
chemical_list: D015345:Oligonucleotide Probes