C. Vaurs-Barrière

发表

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

B. Dastugue, S. Matsuzaki, M. Canis, 2005, Fertility and sterility.

Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects

B. Dan, R. Touraine, G. De Michele, 2009, Annals of neurology.

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis.

J. Herman, S. Baylin, B. Ponder, 2001, Human molecular genetics.

Relevance of GJC2 promoter mutation in Pelizaeus‐Merzbacher–like disease

E. Bertini, C. Vaurs-Barrière, O. Boespflug-Tanguy, 2012, Annals of neurology.

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

Philippe Arnaud, Franck Court, Catherine Vaurs-Barrière, 2016, Carcinogenesis.

The Long Non-Coding RNA HOXA-AS2 Promotes Proliferation of Glioma Stem Cells and Modulates Their Inflammation Pathway Mainly through Post-Transcriptional Regulation

C. Vaurs-Barrière, F. Court, P. Arnaud, 2022, International journal of molecular sciences.

L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus

C. Vaurs-Barrière, Yoan Renaud, F. Court, 2022, Human molecular genetics.

Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies

E. Bertini, R. Schiffmann, T. Frebourg, 2006, Annals of human genetics.

Insertion of mutant proteolipid protein results in missorting of myelin proteins

R. Schiffmann, J. Heiss, C. Vaurs-Barrière, 2003, Annals of neurology.

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype–Phenotype Correlation

R. Touraine, T. Visser, C. Vaurs-Barrière, 2013, Human mutation.

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

F. Penault-Llorca, B. Dastugue, S. Matsuzaki, 2004, Molecular human reproduction.

Genes involved in leukodystrophies: A glance at glial functions

C. Vaurs-Barrière, O. Boespflug-Tanguy, A. Fogli, 2008, Current neurology and neuroscience reports.

Low frequency of microsatellite instability inBRCA1 mutated breast tumours

F. Penault-Llorca, Y. Bignon, C. Vaurs-Barrière, 2000, Journal of medical genetics.

CLIFinder: identification of LINE-1 chimeric transcripts in RNA-seq data

Romain Pogorelcnik, Philippe Arnaud, Marie-Elisa Pinson, 2018, Bioinform..

Relevance of SOX17 Variants for Hypomyelinating Leukodystrophies and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

D. Rodriguez, C. Vaurs-Barrière, O. Boespflug-Tanguy, 2012, Annals of human genetics.

Widespread overexpression from the four DNA hypermethylated HOX clusters in aggressive (IDHwt) glioma is associated with H3K27me3 depletion and alternative promoter usage

C. Vaurs-Barrière, F. Court, P. Arnaud, 2021, Molecular oncology.

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

T. Khalil, C. Vaurs-Barrière, F. Court, 2019, Genome research.

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

T. Visser, R. Peeters, C. Vaurs-Barrière, 2014, Molecular endocrinology.

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011, Orphanet journal of rare diseases.

Molecular Genetic Analysis of the PLP 1 Gene in 38 Families with PLP 1-related disorders : Identification and Functional Characterization of 11 Novel PLP 1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011 .

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

E. Bertini, R. Schiffmann, D. Rodriguez, 2006, Neurogenetics.

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

C. Vaurs-Barrière, O. Boespflug-Tanguy, P. Combes, 2008, Human mutation.

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

C. Vaurs-Barrière, O. Boespflug-Tanguy, A. Gelot, 2010, Neuroscience.

Most of transcriptional alterations in glioma result from DNA-methylation independent mechanisms

T. Khalil, C. Vaurs-Barrière, F. Court, 2019, bioRxiv.

Most of the deregulated CpG-island-controlled genes in glioma do not show DNA methylation defects

T. Khalil, C. Vaurs-Barrière, P. Arnaud, 2019 .

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

C. Godfraind, C. Vaurs-Barrière, P. Arnaud, 2017, Journal of Neuro-Oncology.

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

C. Vaurs-Barrière, O. Boespflug-Tanguy, P. Combes, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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.

F. Penault-Llorca, Y. Bignon, F. Kwiatkowski, 1998, International journal of oncology.

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease

J. Auwerx, C. Vaurs-Barrière, O. Boespflug-Tanguy, 2017, Brain pathology.

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.

C. Vaurs-Barrière, O. Boespflug-Tanguy, C. Sarret, 2011, American journal of human genetics.

Fluorescent mRNA labeling through cytoplasmic FISH

C. Chazaud, C. Vaurs-Barrière, M. Gasnier, 2013, Nature Protocols.

Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

A. Afenjar, R. Wanders, C. Vaurs-Barrière, 2012, Journal of the Neurological Sciences.

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

F. Penault-Llorca, B. Dastugue, S. Matsuzaki, 2004, Molecular human reproduction.

CLIFinder: identification of LINE-1 chimeric transcripts in RNA-seq data

C. Vaurs-Barrière, Romain Pogorelcnik, F. Court, 2018, Bioinform..