E. Ruano

发表

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type

S. Thibodeau, A. Puisieux, Qing Wang, 2003, Human Genetics.

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing

Qing Wang, Valérie Bonadona, J. Saurin, 2006, Human mutation.

Intensity‐dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles

Z. Herceg, J. Saurin, A. Puisieux, 2011, Genes, chromosomes & cancer.

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation

J. Saurin, A. Puisieux, Qing Wang, 2007, Human mutation.

Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

D. Frappaz, A. Puisieux, Q. Wang, 1999, Cancer research.

Advances in Brief Neurofibromatosis and Early Onset of Cancers in h MLH 1-deficient Children 1

D. Frappaz, A. Puisieux, Qing Wang, 1999 .

Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients

A. Viari, Qing Wang, E. Ruano, 2020, European Journal of Human Genetics.

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

J. Saurin, J. Bosset, A. Puisieux, 1999, Human Genetics.

Controlling crystal growth of non-toxic Bismuth iodide (BiI3) semiconducting material for efficient photovoltaics

M. Masroor, T. Yan, J. McRae, 2020, OPTO.

PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene

E. Ruano, C. Lefol, Ahmed Bouras, 2023, Genes, chromosomes & cancer.

From variant of unknown significance to likely pathogenic: Characterization and pathogenicity determination of a large genomic deletion in the MLH1 gene

E. Ruano, C. Lefol, J. Kourda, 2023, Molecular genetics & genomic medicine.

A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome

E. Ruano, C. Lefol, Pierre Naibo, 2022, Familial Cancer.