Lista de obras -

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

artículo científico publicado en 2016

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

artículo científico publicado en 2021

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Genotype-phenotype correlations in hereditary familial retinoblastoma

artículo científico publicado en 2007

MDM2 as a modifier gene in retinoblastoma

artículo científico publicado en 2010

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

artículo científico publicado en 2016

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

artículo científico publicado en 2011

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

artículo científico publicado el 1 de enero de 2011

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

artículo científico publicado en 2014

Lista de obras de

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

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

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

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

Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma

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

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

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

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

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

Genotype-phenotype correlations in hereditary familial retinoblastoma

MDM2 as a modifier gene in retinoblastoma

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

Screening for Genomic Rearrangements by Multiplex PCR/Liquid Chromatography ⬇️

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