Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

FINANCIAL DISCLOSURE: Dr Romano is a consultant to both Genentech, Inc and Novo
Nordisk, Inc and also participates on the speaker's bureaus of both companies; Dr Dahlgren …

The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL
characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 …

Noonan syndrome is a relatively common, clinically variable developmental disorder.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism …

Juvenile myelomonocytic leukemia (JMML) is a unique, aggressive hematopoietic disorder
of infancy/early childhood caused by excessive proliferation of cells of monocytic and …

Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of
early childhood. It is classified as an overlap myeloproliferative/myelodysplastic neoplasm …

Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and
cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause∼ 50 …

Childhood malignancies are rarely related to known environmental exposures, and it has
become increasingly evident that inherited genetic factors play a substantial causal role …

Background: Somatic mutations affecting components of the Ras-MAPK pathway are a
common feature of cancer, whereas germline Ras pathway mutations cause developmental …

Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2,
cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas …