Publications by authors named "Eric Ruano"

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Aberrant transcription caused by an intronic non-canonical CDH1 variant.
Ahmed Bouras, Chloé Grand-Masson, Cedrick Lefol, Eric Ruano, Fabienne Prieur

Fam Cancer· November 2024

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Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.
Ahmed Bouras, Cedrick Lefol, Eric Ruano, Chloé Grand-Masson, Jessie Auclair-Perrossier

Hum Mol Genet· May 2024

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PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.
Ahmed Bouras, Cedrick Lefol, Eric Ruano, Chloé Grand-Masson, Qing Wang

Genes Chromosomes Cancer· January 2024

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From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene.
Ahmed Bouras, Clementine Legrand, Jihen Kourda, Eric Ruano, Chloé Grand-Masson

Mol Genet Genomic Med· September 2023

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A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.
Ahmed Bouras, Pierre Naibo, Clémentine Legrand, François Le Marc'hadour, Eric Ruano

Fam Cancer· July 2023

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Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients.
Cedrick Lefol, Emilie Sohier, Christian Baudet, Pierre Naïbo, Eric Ruano

Eur J Hum Genet· March 2021

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Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles.
Jessie Auclair, Thomas Vaissière, Françoise Desseigne, Christine Lasset, Valérie Bonadona, Eric Ruano

Genes Chromosomes Cancer· March 2011

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Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
Jessie Auclair, Dominique Leroux, Françoise Desseigne, Christine Lasset, Jean Christophe Saurin, Eric Ruano

Hum Mutat· November 2007

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Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Jessie Auclair, Marie Pierre Busine, Claudine Navarro, Eric Ruano, Gilles Montmain

Hum Mutat· February 2006

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Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
Qing Wang, Gilles Montmain, Eric Ruano, Meena Upadhyaya, Sandra Dudley

Hum Genet· February 2003

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