MMG PUBLICATIONS

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Results: 3193  publications found.

Lo Cicero, A.  et al. 2016

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced...
Sci Rep - issue: - volume: 6 - pages: 34798.

Lo Cicero, A.  et al. 2016

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced...
Sci Rep - issue: - volume: 6 - pages: 34798.

Lo Cicero, A.  et al. 2016

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced...
Sci Rep - issue: - volume: 6 - pages: 34798.

Lo Cicero, A.  et al. 2016

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced...
Sci Rep - issue: - volume: 6 - pages: 34798.

Lo Cicero, A.  et al. 2016

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced...
Sci Rep - issue: - volume: 6 - pages: 34798.

Brue, T.  et al. 2016

The risks of overlooking the diagnosis of secreting pituitary adenomas

Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these...
Orphanet J Rare Dis - issue: 1 - volume: 11 - pages: 135.

Bevilacqua, J.  et al. 2016

Calpainopathy in Chile, first cases reported

Neuromusc. Disord. - issue: - volume: 26 - pages: S91-S91.

Fatehi, F.  et al. 2016

Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach

Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized...
Rev. Neurol. (Paris) - issue: 10 - volume: 172 - pages: 566-571.

Fatehi, F.  et al. 2016

Muscle MRI of facioscapulohumeral dystrophy (FSHD): A growing demand and a promising approach

Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized...
Rev. Neurol. (Paris) - issue: 10 - volume: 172 - pages: 566-571.

Rajabally, YA.  et al. 2016

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Distinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is...
J. Neurol. Neurosurg. Psychiatr. - issue: 10 - volume: 87 - pages: 1051-1060.

Oetting, WS.  et al. 2016

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society

WOS:000385805800012
Hum. Mutat. - issue: 10 - volume: 37 - pages: 1110-1113.

Coquart, B.  et al. 2016

Anterolateral ligament of the knee: myth or reality?

PURPOSE: A ligament of the knee has recently drawn the attention: the rediscovered anterolateral ligament (ALL) of the knee. The tibial insertion of the ALL is torn off in the Segond fracture,...
Surg Radiol Anat - issue: 8 - volume: 38 - pages: 955-962.

Rajabally, YA.  et al. 2016

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Distinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is...
J. Neurol. Neurosurg. Psychiatr. - issue: 10 - volume: 87 - pages: 1051-1060.

Coquart, B.  et al. 2016

Anterolateral ligament of the knee: myth or reality?

PURPOSE: A ligament of the knee has recently drawn the attention: the rediscovered anterolateral ligament (ALL) of the knee. The tibial insertion of the ALL is torn off in the Segond fracture,...
Surg Radiol Anat - issue: 8 - volume: 38 - pages: 955-962.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Background: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Background: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.

Gaillard, M.  et al. 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence...
BMC Med. Genet. - issue: 1 - volume: 17 - pages: 66.