Associated Papers
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable3
Transient immune deficiency accompanied with homozygous CBL rare variant.
Morishita A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2023
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Onesimo R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS
Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.
Cardoso L et al.
Clinical Case Reports, 2021
Precise base editing for the in vivo study of developmental signaling and human pathologies in zebrafish.
Rosello M et al.
Elife, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Single-cell analysis based dissection of clonality in myelofibrosis.
Mylonas E et al.
Nature Communications, 2020
31911629 (PubMed )
Supplement: 41467_2019_13892_MOESM4_ESM.xlsx › MPN10
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S et al.
Human Mutation, 2015
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
Bülow L et al.
American Journal of Medical Genetics. Part A, 2015
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
Brand K et al.
Human Mutation, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.
Schnittger S et al.
Haematologica, 2012
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S et al.
American Journal of Human Genetics, 2010
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