Isabelle Tournier

Rouen, France

Last Updated: 09/26/2026

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Found 20 publications

TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.

TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.

Journal: Rheumatology (Oxford, England)

Published: January 17, 2021

New Insights into Plant Extracellular DNA. A Study in Soybean Root Extracellular Trap.

New Insights into Plant Extracellular DNA. A Study in Soybean Root Extracellular Trap.

Journal: Cells

Published: December 10, 2020

Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal: Journal of medical genetics

Published: April 01, 2020

Comparative Genome Analysis of Staphylococcus lugdunensis Shows Clonal Complex-Dependent Diversity of the Putative Virulence Factor, ess/Type VII Locus.

Comparative Genome Analysis of Staphylococcus lugdunensis Shows Clonal Complex-Dependent Diversity of the Putative Virulence Factor, ess/Type VII Locus.

Journal: Frontiers in microbiology

Published: July 22, 2019

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

Journal: BMC genomics

Published: July 16, 2019

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.

Journal: Acta neuropathologica communications

Published: September 27, 2018

Differential expression of hemoglobin receptor, HmbR, between carriage and invasive isolates of Neisseria meningitidis contributes to virulence: lessons from a clonal outbreak.

Differential expression of hemoglobin receptor, HmbR, between carriage and invasive isolates of Neisseria meningitidis contributes to virulence: lessons from a clonal outbreak.

Journal: Virulence

Published: April 12, 2018

Comparative in depth RNA sequencing of P. tricornutum's morphotypes reveals specific features of the oval morphotype.

Comparative in depth RNA sequencing of P. tricornutum's morphotypes reveals specific features of the oval morphotype.

Journal: Scientific reports

Published: February 21, 2018

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 08, 2018

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Journal: European journal of human genetics : EJHG

Published: November 27, 2017

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.

Journal: Journal of medical genetics

Published: August 11, 2017

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Journal: Human molecular genetics

Published: May 05, 2017

Showing 1-12 of 20

Last Updated: 09/26/2026