List of works by Catherine Vaurs-Barrière

Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction

scientific article published on 01 June 2008

CLIFinder: Identification of LINE-1 Chimeric Transcripts in RNA-seq data.

scientific article published on 23 October 2017

DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection.

scientific article

DNA microarray analysis of gene expression profiles in deep endometriosis using laser capture microdissection.

scientific article

Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis

scientific article published on 28 July 2017

Fluorescent mRNA labeling through cytoplasmic FISH.

scientific article published on 21 November 2013

Genes involved in leukodystrophies: a glance at glial functions.

scientific article

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

scientific article

In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency

scientific article

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

scientific article

Low frequency of microsatellite instability in BRCA1 mutated breast tumours.

scientific article published in October 2000

Molecular abnormalities in epithelial ovarian tumors: present and future

scientific article

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

scientific article

Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.

scientific article published on 27 December 2009

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

scientific article published on 17 January 2006

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

scientific article published in August 2008

Pathology of sporadic breast tumors with LOH at the BRCA1 locus: correlation with histopathological features specific to familial BRCA1 tumors and absence of microsatellite instability.

scientific article published in June 1998

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

scientific article published on 18 January 2011

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

scientific article published on 20 February 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

scientific article published on 26 August 2011

The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival

scientific article published on 30 December 2015

Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms

scientific article published on 18 September 2019