Associated Papers
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Andrianova EP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37579140 (PubMed )
Supplement: pnas.2304184120.sapp.pdf
A rare mutation in a patient with Noonan syndrome with multiple lentigines.
Blanco-Cintrón ME et al.
Jaad Case Reports, 2023
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.
Pierpont EI et al.
American Journal of Medical Genetics. Part A, 2017
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J et al.
Molecular Medicine Reports, 2016
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2015
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