Associated Papers
High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.
Ouboukss F et al.
Journal of Applied Genetics, 2024
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Antić Ž et al.
Haematologica, 2021
33147938 (PubMed )
Supplement: 2020_259226_ANTIC_SUPPL_TABLES.xlsx › Supplementary_Table_14
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP et al.
Bmc Medical Genetics, 2020
SF3B1, NRAS, KIT, and BRAF Mutation; CD117 and cMYC Expression; and Tumoral Pigmentation in Sinonasal Melanomas: An Analysis With Newly Found Molecular Alterations and Some Population-Based Molecular Differences.
Wroblewska JP et al.
The American Journal of Surgical Pathology, 2019
Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.
Siroy AE et al.
The Journal of Investigative Dermatology, 2015
25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
Papadopoulou A et al.
European Journal of Pediatrics, 2012
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC et al.
European Journal of Human Genetics : Ejhg, 2011
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