MMG PUBLICATIONS

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Results: 3220  publications found.

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.

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.

Lacroix, A.  et al. 2018

Efficacy and safety of once-monthly pasireotide in Cushing's disease: a 12 month clinical trial.

BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing...
Lancet Diabetes Endocrinol - issue: 1 - volume: 6 - pages: 17-26.

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.

Sauvestre, F.  et al. 2017

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation

Neuropathol. Appl. Neurobiol. - issue: 7 - volume: 43 - pages: 631-635.

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

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.

Nafisinia, M.  et al. 2017

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the...
PLoS ONE - issue: 6 - volume: 12 - pages: e0178125.