Ineke van der Burgt

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., Van der Burgt, Ineke, ...

Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the...

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Vissers, Lisenka E. L. M., De Vries, Bert B. A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, ...

Microdeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can...

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, ...

Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short...