MMG PUBLICATIONS

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Results: 4167  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.

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.

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. Desipramine, a noradrenaline reuptake inhibitor,...
Ann Clin Transl Neurol - 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

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.

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.

Reznik, Y.  et al. 2018

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 1-22.

Gilly, O.  et al. 2018

Unilateral aggressive pheochromocytoma revealed by a massive intraperitoneal hemorrhage five years after an initial presentation suggesting an adrenal hematoma.

Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 48-52.

Amodru, V.  et al. 2018

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

INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and...
Eur J Nucl Med Mol Imaging - issue: 2 - volume: 45 - pages: 278-282.

Guerin, C.  et al. 2018

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T15-T28.

Castinetti, F.  et al. 2018

A comprehensive review on MEN2B.

MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features,...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T29-T39.

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.

Mortreux, J.  et al. 2018

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

INTRODUCTION: A 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...
Eur J Hum Genet - issue: 1 - volume: 26 - pages: 143-148.

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.