List of works by Cibele Masotti

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction

scientific article published on October 2005

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

scientific article published on 14 November 2007

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

scientific article published on 19 June 2013

Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls

scientific article

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

article

Identification of the <i>TP53</i> p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome

scientific article published in 2021

Intratumoral Genetic Heterogeneity in Rectal Cancer: Are Single Biopsies representative of the entirety of the tumor?

scientific article published in January 2017

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

scientific article

Targeting MAGE-C1/CT7 expression increases cell sensitivity to the proteasome inhibitor bortezomib in multiple myeloma cell lines

scientific article

Understanding human DNA variants affecting pre-mRNA splicing in the NGS era

scientific article published on 17 January 2019

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