MMG PUBLICATIONS

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Results: 1708  publications found.

Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.


Roubertoux, PL.  et al. 2018

Measuring Preweaning Sensorial and Motor Development in the Mouse

The immaturity at birth and the slowness of ontogenic processes in mice provide the opportunity to measure rates of development. We describe here 18 measures covering the sensorial and motor onset...
Curr Protoc Mouse Biol - issue: 1 - volume: 8 - pages: 54-78.


Fabre, A.  et al. 2018

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth...
Am. J. Med. Genet. A - issue: 3 - volume: 176 - pages: 727-732.


Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BackgroundMC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (MSH), modulates pigment production in melanocytes from many species and is associated with...
- issue: 5 - volume: 110 - pages: 443-455.


Fabre, A.  et al. 2018

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth...
- issue: 3 - volume: 176 - pages: 727 - 732.


Prados, B.  et al. 2018

Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity

During mammalian heart development, restricted myocardial Bmp2 expression is a key patterning signal for atrioventricular canal specification and the epithelial-mesenchyme transition that gives rise...
- issue: 3 - volume: 9 - pages: .


Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
- issue: 3 - volume: 102 - pages: 364 - 374.


Metais, A.  et al. 2018

Asb2 alpha-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development

Rationale: Heart development involves differentiation of cardiac progenitors and assembly of the contractile sarcomere apparatus of cardiomyocytes. However, little is known about the mechanisms that...
- issue: 6 - volume: 122 - pages: E34+.


Esteve, C.  et al. 2018

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three...
Am. J. Hum. Genet. - issue: 3 - volume: 102 - pages: 364-374.


Levy, N.  et al. 2018

"Pain as the fifth vital sign" and dependence on the "numerical pain scale" is being abandoned in the US: Why?

Br. J. Anaesth. - issue: 3 - volume: 120 - pages: 435-438.


Barthelemy, F.  et al. 2018

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal...
- issue: 1 - volume: 5 - pages: 21 - 28.


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.