Associated Papers
Mosaic variegated aneuploidy in development, ageing and cancer.
Malumbres M et al.
Nature Reviews. Genetics, 2024
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
Hübner CT et al.
Molecular Syndromology, 2022
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax.
De la Torre-García O et al.
European Journal of Medical Genetics, 2019
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S6
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K et al.
Nature Genetics, 2011
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