Concepedia

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

Anna Papadopoulou, Michalis Issakidis, Evangelia Gole, Konstantina Kosma, Helen Fryssira, Andreas Fretzayas, Polyxeni Nicolaidou, Sophia Kitsiou‐Tzeli

European Journal of Pediatrics · 2011 · 20 citations · 36 references

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References

36

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

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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

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Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 740 citations

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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 702 citations

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Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Amy E. Roberts, Toshiyuki Araki, Kenneth D. Swanson et al. · Nature Genetics · 2006 · 600 citations

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