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Results: 1693  publications found.

Ehinger, Y.  et al. 2018

Rett syndrome from bench to bedside: recent advances

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and...
F1000Res - issue: - volume: 7 - pages: 398.

Barthélémy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
J Neuromuscul Dis - issue: 1 - volume: 5 - pages: 21-28.

Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.

Bodokh, Y.  et al. 2018

ALK-TPM3 rearrangement in adult renal cell carcinoma: Report of a new case showing loss of chromosome 3 and literature review

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional...
Cancer Genet - issue: - volume: 221 - pages: 31-37.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules

Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.

Hasegawa, S.  et al. 2018

Efficient construction of xenogeneic genomic libraries by circumventing restriction-modification systems that restrict methylated DNA

An efficient method to construct xenogeneic genomic libraries with low errors and bias by circumventing restriction-modification systems that restrict methylated DNA was developed. Un-methylated...
J. Microbiol. Methods - issue: - volume: 146 - pages: 13-15.

Etchevers, HC.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.

Frankel, D.  et al. 2018

Detection of EGFR, KRAS and BRAF mutations in metastatic cells from cerebrospinal fluid

BACKGROUND: In lung adenocarcinoma, molecular profiling of actionable genes has become essential to set up targeted therapies. However, the feasibility and the relevance of molecular profiling from...
Clin. Chem. Lab. Med. - issue: 5 - volume: 56 - pages: 748-753.

Kitade, Y.  et al. 2018

Production of 4-Hydroxybenzoic Acid by an Aerobic Growth-Arrested Bioprocess Using Metabolically Engineered Corynebacterium glutamicum

Corynebacterium glutamicum was metabolically engineered to produce 4-hydroxybenzoic acid (4-HBA), a valuable aromatic compound used as a raw material for the production of liquid crystal polymers and...
Appl. Environ. Microbiol. - issue: 6 - volume: 84 - pages: .

Sanders, A.  et al. 2018

Using a Media Campaign to Increase Engagement With a Mobile-Based Youth Smoking Cessation Program

PURPOSE: To describe the impact of the National Cancer Institute's promotion of its youth smoking cessation program, Smokefree Teen (SFT). DESIGN: We provide a description of campaign strategies and...
Am J Health Promot - issue: 5 - volume: 32 - pages: 1273-1279.

Yauy, K.  et al. 2018

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the...
- issue: 4 - volume: 20 - pages: 465-473.

Eiler, S.  et al. 2018

Unstable Protein Purification Through the Formation of Stable Complexes

Purification of proteins containing disordered regions and participating in transient complexes is often challenging because of the small amounts available after purification, their heterogeneity,...
Methods Mol. Biol. - issue: - volume: 1764 - pages: 315-328.

Kheloufi, F.  et al. 2018

Chronic use of proton pump inhibitors, adverse events and potential biological mechanisms: A translational analysis

Proton pump inhibitors (PPIs) are among the most frequently prescribed drugs. Even if PPI are usually considered as safe, there is a growing concern for a range of adverse effects of chronic PPI...
- issue: - volume: - pages: .

Maurice, F.  et al. 2018

Active Cushing syndrome patients have increased ectopic fat deposition and bone marrow fat content compared to cured patients and healthy subjects: a pilot H-1-MRS study

Objective: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a new mediator of bone metabol ism. Cushing syndrome (CS) is a main...
- issue: 5 - volume: 179 - pages: 307-317.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
- issue: - volume: - pages: .

Etchevers, H.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
- issue: - volume: - pages: .

Rajabally, YA.  et al. 2018


A systematic review of the literature was performed on the association of chronic inflammatory demyelinating polyneuropathy (CIDP) with malignancy. Hematological disorders are the most common...
- issue: 6 - volume: 57 - pages: 875-883.

Caulier, A.  et al. 2018

Primary red cell hydration disorders: Pathogenesis and diagnosis

Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume...
- issue: 1, SI - volume: 40 - pages: 68-73.

Sevy, A.  et al. 2018

Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain-Barre syndrome

Objective: Current diagnostic electrophysiological criteria can miss the early stages of Guillain-Barre syndrome (GBS). We evaluated the diagnostic efficiency of the triple stimulation technique (TST)...
- issue: 1 - volume: 129 - pages: 127-132.

Moore-Morris, T.  et al. 2018

Infarct Fibroblasts Do Not Derive From Bone Marrow Lineages

Rationale: Myocardial infarction is a major cause of adult mortality worldwide. The origin(s) of cardiac fibroblasts that constitute the postinfarct scar remain controversial, in particular the...
- issue: 4 - volume: 122 - pages: 583-590.