Concepedia

Genotype-phenotype correlations in Noonan syndrome

Martin Zenker, G. Buheitel, R. Rauch, Rainer Koenig, Kirstin Bosse, H. U. Tietze, Helmuth-Guenther Doerr, Michael Hofbeck, H. Singer, André Reis,

The Journal of Pediatrics · 2004 · 248 citations · 16 references

DOI

Concepts

References

16

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

Marco Tartaglia, Charlotte M. Niemeyer, Alessandra Fragale et al. · Nature Genetics · 2003 · 1K citations

, , +17

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

Marco Tartaglia, Kamini Kalidas, Adam Shaw et al. · The American Journal of Human Genetics · 2002 · 797 citations · Full text

, , +9

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

M. Cristina Digilio, Emanuela Conti, Anna Sárközy et al. · The American Journal of Human Genetics · 2002 · 422 citations · Full text

, , +9

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady et al. · Nature Genetics · 1994 · 290 citations

, , +9