MMG PUBLICATIONS

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Results: 1693  publications found.

Marisa, L.  et al. 2013

Gene Expression Classification of Colon Cancer into Molecular Subtypes: Characterization, Validation, and Prognostic Value

Background: Colon cancer (CC) pathological staging fails to accurately predict recurrence, and to date, no gene expression signature has proven reliable for prognosis stratification in clinical...
PLos Med. - issue: 5 - volume: 10 - pages: e1001453.


Popovici, C.  et al. 2013

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins

Deletions in 15q13.3 belong to the most frequently identified recurrent CNVs, and lead to mental retardation, seizures and minor dysmorphism. We report on two monozygotic twin boys with a mosaic 1.5...
Eur. J. Med. Genet. - issue: 5 - volume: 56 - pages: 274-277.


Puceat, M.  et al. 2013

Embryological origin of the endocardium and derived valve progenitor cells: From developmental biology to stem cell-based valve repair

The cardiac valves are targets of both congenital and acquired diseases. The formation of valves during embryogenesis (i.e., valvulogenesis) originates from endocardial cells lining the myocardium....
Biochim. Biophys. Acta-Mol. Cell Res. - issue: 4 - volume: 1833 - pages: 917-922.


Diala, I.  et al. 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/beta-catenin signalling pathway in...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.


Agouti, I.  et al. 2013

Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis

To evaluate the analytical performance of a new capillary electrophoresis instrument, the Capillarys 2 Flex piercing (Sebia, France), allowing the separation and quantitative estimation of the...
Int. J. Lab. Hematol. - issue: 2 - volume: 35 - pages: 217-221.


Mozzetta, C.  et al. 2013

Fibroadipogenic progenitors mediate the ability of HDAC inhibitors to promote regeneration in dystrophic muscles of young, but not old Mdx mice

HDAC inhibitors (HDACi) exert beneficial effects in mdx mice, by promoting endogenous regeneration; however, the cellular determinants of HDACi activity on dystrophic muscles have not been determined....
EMBO Mol Med - issue: 4 - volume: 5 - pages: 626-639.


Cuny, T.  et al. 2013

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis

CONTEXT: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise,...
Eur. J. Endocrinol. - issue: 4 - volume: 168 - pages: 533-541.


Viollet, S.  et al. 2013

Feed-forward and visual feedback control of head roll orientation in wasps (Polistes humilis, Vespidae, Hymenoptera)

Flying insects keep their visual system horizontally aligned, suggesting that gaze stabilization is a crucial first step in flight control. Unlike flies, hymenopteran insects such as bees and wasps do...
J. Exp. Biol. - issue: Pt 7 - volume: 216 - pages: 1280-1291.


Viollet, S.  et al. 2013

Feed-forward and visual feedback control of head roll orientation in wasps (Polistes humilis, Vespidae, Hymenoptera)

Flying insects keep their visual system horizontally aligned, suggesting that gaze stabilization is a crucial first step in flight control. Unlike flies, hymenopteran insects such as bees and wasps do...
J. Exp. Biol. - issue: Pt 7 - volume: 216 - pages: 1280-1291.


Diala, I.  et al. 2013

Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway

The DNA-binding protein TRF2 is essential for telomere protection and chromosome stability in mammals. We show here that TRF2 expression is activated by the Wnt/β-catenin signalling pathway in human...
EMBO Rep. - issue: 4 - volume: 14 - pages: 356-363.


Delio, M.  et al. 2013

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic...
Am. J. Hum. Genet. - issue: 3 - volume: 92 - pages: 439-447.


Daubersies, L.  et al. 2013

Steady and out-of-equilibrium phase diagram of a complex fluid at the nanolitre scale: combining microevaporation, confocal Raman imaging and small angle X-ray scattering

We engineered specific microfluidic devices based on the pervaporation of water through a PDMS membrane, to formulate continuous and steady concentration gradients of a binary aqueous molecular...
Lab Chip - issue: 5 - volume: 13 - pages: 910-919.


Daubersies, L.  et al. 2013

Steady and out-of-equilibrium phase diagram of a complex fluid at the nanolitre scale: combining microevaporation, confocal Raman imaging and small angle X-ray scattering

We engineered specific microfluidic devices based on the pervaporation of water through a PDMS membrane, to formulate continuous and steady concentration gradients of a binary aqueous molecular...
Lab Chip - issue: 5 - volume: 13 - pages: 910-919.


Chouery, E.  et al. 2013

Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father

We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow...
Mol Syndromol - issue: 3 - volume: 4 - pages: 136-142.


Chouery, E.  et al. 2013

Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father

We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow...
Mol Syndromol - issue: 3 - volume: 4 - pages: 136-142.


Cong, L.  et al. 2013

Multiplex Genome Engineering Using CRISPR/Cas Systems

Functional elucidation of causal genetic variants and elements requires precise genome editing technologies. The type II prokaryotic CRISPR (clustered regularly interspaced short palindromic...
Science - issue: 6121 - volume: 339 - pages: 819-823.


Blandin, G.  et al. 2013

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

BACKGROUND: The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies...
Skelet Muscle - issue: 1 - volume: 3 - pages: 3.


Böhm, J.  et al. 2013

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.


Böhm, J.  et al. 2013

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.


Böhm, J.  et al. 2013

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced...
Am. J. Hum. Genet. - issue: 2 - volume: 92 - pages: 271-278.