List of works - Catherine Dehainault

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

scientific article

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

scientific article published on 14 February 2007

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

scientific article published on 22 September 2021

ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis

scientific article published on 25 January 2019

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

scientific article published on 18 June 2020

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

scientific article published in June 2003

Combination of Carboplatin and Bevacizumab Is an Efficient Therapeutic Approach in Retinoblastoma Patient-Derived Xenografts

scientific article published on 01 September 2016

Evaluation of in silico splice tools for decision-making in molecular diagnosis

scientific article published in July 2008

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

scientific article published on 9 February 2016

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

scientific article published on 22 August 2012

Genotype-phenotype correlations in hereditary familial retinoblastoma

scientific article published on 01 March 2007

MDM2 as a modifier gene in retinoblastoma

scientific article published on 4 November 2010

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

scientific article published on 21 December 2016

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

scientific article published on 08 September 2011

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

scientific article published on January 1, 2011

The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion