MMG PUBLICATIONS

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Results: 1693  publications found.

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...
Circ Res - issue: 4 - volume: 122 - pages: 583-590.


Amodru, V.  et al. 2018

Quantitative F-18-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype

Introduction F-18-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between F-18-FDOPA quantitative parameters and a...
- issue: 2 - volume: 45 - pages: 278-282.


Mancini, J.  et al. 2018

Effect of desipramine on patients with breathing disorders in RETT syndrome

Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipra-mine, a noradrenaline reuptake inhibitor,...
- issue: 2 - volume: 5 - pages: 118 - 127.


Noury, J.  et al. 2018

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

- issue: 2 - volume: 57 - pages: 330 - 334.


Ben Rekaya, M.  et al. 2018

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

- issue: 2 - volume: 89 - pages: 172--180.


Noury, J.  et al. 2018

RIGID SPINE SYNDROME ASSOCIATED WITH SENSORY-MOTOR AXONAL NEUROPATHY RESEMBLING CHARCOT-MARIE- TOOTH DISEASE IS CHARACTERISTIC OF Bcl-2-ASSOCIATED ATHANOGENE-3 GENE MUTATIONS EVEN WITHOUT CARDIAC INVOLVEMENT

Introduction: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progres-sive myofibrillar myopathies. Symptoms begin in the first decade with axial...
Muscle Nerve - issue: 2 - volume: 57 - pages: 330-334.


Nguyen, K.  et al. 2018

L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.

La dystrophie Facio Scapulo Humérale (FSHD) est la troisième dystrophie neuromusculaire par ordre de fréquence. Cette maladie autosomale dominante est liée au locus subtélomérique 4q35 et est associée...
- issue: - volume: - pages: .


Harhouri, K.  et al. 2018

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually...
Nucleus - issue: 1 - volume: 9 - pages: 246-257.


Marisa, L.  et al. 2018

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors

BackgroundImmune checkpoint (ICK) expression might represent a surrogate measure of tumor-infiltrating T cell (CTL) exhaustion and therefore be a more accurate prognostic biomarker for colorectal...
- issue: 1 - volume: 110 - pages: 68-77.


Odelin, G.  et al. 2018

Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve

Although cardiac neural crest cells are required at early stages of arterial valve development, their contribution during valvular leaflet maturation remains poorly understood. Here, we show in mouse...
- issue: 1 - volume: 145 - pages: dev151944.


Mortreux, J.  et al. 2018

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

IntroductionA large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome...
- issue: 1 - volume: 26 - pages: 143-148.


Nagara, M.  et al. 2018

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

AIM OF THE STUDY Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms...
- issue: 1 - volume: 61 - pages: 1--7.


Harhouri, K.  et al. 2018

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually...
Nucleus - issue: 1 - volume: 9 - pages: 246-257.


Valassi, E.  et al. 2017

Diagnostic tests for Cushing's syndrome differ from published guidelines: data from ERCUSYN

OBJECTIVE: To evaluate which tests are performed to diagnose hypercortisolism in patients included in the European Registry on Cushing's syndrome (ERCUSYN), and to examine if their use differs from...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 613-624.


Gonzalez, D.  et al. 2017

ALS skeletal muscle shows enhanced TGF-β signaling, fibrosis and induction of fibro/adipogenic progenitor markers

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory...
PLoS ONE - issue: 5 - volume: 12 - pages: e0177649.


Elkhatib, RA.  et al. 2017

LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist

During spermiogenesis the spermatid nucleus is elongated, and dramatically reduced in size with protamines replacing histones to produce a highly compacted chromatin. After fertilisation, this process...
Reproduction - issue: 4 - volume: 154 - pages: 387-401.


Etienne-Grimaldi, M.  et al. 2017

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.


Wang, W.  et al. 2017

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity...
PLoS ONE - issue: 1 - volume: 12 - pages: e0169878.


Elkhatib, RA.  et al. 2017

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome. Consistent with...
Hum. Mol. Genet. - issue: 16 - volume: 26 - pages: 3167-3171.


Etienne-Grimaldi, M.  et al. 2017

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BACKGROUND: Deficiency in dihydropyrimidine dehydrogenase (DPD) enzyme is the main cause of severe and lethal fluoropyrimidine-related toxicity. Various approaches have been developed for...
PLoS ONE - issue: 5 - volume: 12 - pages: e0175998.