MMG PUBLICATIONS

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Results: 3220  publications found.

Potorac, I.  et al. 2016

T2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly

GH-secreting pituitary adenomas can be hypo-, iso- or hyper-intense on T2-weighted MRI sequences. We conducted the current multicenter study in a large population of patients with acromegaly to...
Endocr. Relat. Cancer - issue: 11 - volume: 23 - pages: 871-881.

Rapetti-Mauss, R.  et al. 2016

Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel

Haematologica - issue: 11 - volume: 101 - pages: e431-e435.

Albarel, F.  et al. 2016

Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report

Steroidogenic acute regulatory protein (StAR) mutations are the most frequent aetiologies of congenital lipoid adrenal hyperplasia (CLAH). Phenotypes may vary, and puberty may be absent in affected...
Hum. Reprod. - issue: 11 - volume: 31 - pages: 2609-2612.

Caubit, X.  et al. 2016

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

TSHZ3, which encodes a zinc-finger transcription factor, was recently positioned as a hub gene in a module of the genes with the highest expression in the developing human neocortex, but its functions...
Nat. Genet. - issue: 11 - volume: 48 - pages: 1359-1369.

Soria-Valles, C.  et al. 2016

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Background Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally...
J. Med. Genet. - issue: 11 - volume: 53 - pages: 776-785.

Knopp, P.  et al. 2016

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype, genomic and/or epigenetic changes at the...
J. Cell. Sci. - issue: 20 - volume: 129 - pages: 3816-3831.

Knopp, P.  et al. 2016

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype, genomic and/or epigenetic changes at the...
J. Cell. Sci. - issue: 20 - volume: 129 - pages: 3816-3831.

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.