MMG PUBLICATIONS

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Results: 2278  publications found.

Milh, M.  et al. 2013

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy

Early-onset epileptic encephalopathies (EOEEs) are a group of rare devastating epileptic syndromes of infancy characterized by severe drug-resistant seizures and electroencephalographic abnormalities....
Hum. Mutat. - issue: 6 - volume: 34 - pages: 869-872.


Caruso, N.  et al. 2013

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Caruso, N.  et al. 2013

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Linssen, WHJP.  et al. 2013

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy

Background and purpose To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD). Methods A long-term clinical follow-up study was...
Eur. J. Neurol. - issue: 6 - volume: 20 - pages: 968-974.


Caruso, N.  et al. 2013

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts....
PLoS Genet. - issue: 6 - volume: 9 - pages: e1003550.


Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.


Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.


Milh, M.  et al. 2013

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

BACKGROUND: Early onset epileptic encephalopathies (EOEEs) are dramatic heterogeneous conditions in which aetiology, seizures and/or interictal EEG have a negative impact on neurological development....
Orphanet J Rare Dis - issue: - volume: 8 - pages: 80.


Milano, G.  et al. 2013

A French multifactorial prospective study of tumor protein and genetic markers in stage I-III colorectal cancer (CRC): Highlight on molecular characteristics related to mismatch repair (MMR) status

WOS:000335419601331
J. Clin. Oncol. - issue: 15 - volume: 31 - pages: .


Andre, F.  et al. 2013

Array CGH and DNA sequencing to personalize targeted treatment of metastatic breast cancer (MBC) patients (pts): A prospective multicentric trial (SAFIR01)

WOS:000335419600016
J. Clin. Oncol. - issue: 15 - volume: 31 - pages: .


Oudot, C.  et al. 2013

Desmoid tumors in children: current strategy

Desmoid tumor (DT) or aggressive fibromatosis is a histologically benign-appearing neoplasms of the soft tissues, arising from connective tissues, the fascial sheaths and musculoaponevrotic structures...
Bull. Cancer - issue: 5 - volume: 100 - pages: 518-528.


Catelain, C.  et al. 2013

Myoblasts and Embryonic Stem Cells Differentially Engraft in a Mouse Model of Genetic Dilated Cardiomyopathy

The functional and architectural benefits of embryonic stem cells (ESC) and myoblasts (Mb) transplantations into infarcted myocardium have been investigated extensively. Whereas ESC repopulated...
Mol. Ther. - issue: 5 - volume: 21 - pages: 1064-1075.


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.