MMG PUBLICATIONS

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Results: 1707  publications found.

Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .


Juneja, M.  et al. 2018

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

BACKGROUND: Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention. Identification of...
J. Neurol. Neurosurg. Psychiatry - issue: 8 - volume: 89 - pages: 870-878.


Frankel, D.  et al. 2018

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Hereditary and sporadic laminopathies are caused by mutations in genes encoding lamins, their partners, or the metalloprotease ZMPSTE24/FACE1. Depending on the clinical phenotype, they are classified...
- issue: 4 - volume: 17 - pages: e12766.


Trainer, PJ.  et al. 2018

A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly

Objective: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of...
- issue: 2 - volume: 179 - pages: 97-108.


Koy, A.  et al. 2018

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Background: Exacerbation of hyperkinesia is a life-threatening complication of dyskinetic movement disorders, which can lead to multi-organ failure and even to death. GNAO1 has been recently...
- issue: - volume: 391 - pages: 31-39.


Martin, S.  et al. 2018

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

BACKGROUND: 16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language and cognitive impairment. In this multisite...
- issue: 4 - volume: 84 - pages: 253 - 264.


El-Bazzal, L.  et al. 2018

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
Eur J Med Genet - issue: - volume: - pages: .


El-Bazzal, L.  et al. 2018

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
Eur J Med Genet - issue: - volume: - pages: .


Jaouadi, H.  et al. 2018

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric...
J Hum Genet - issue: - volume: 63 - pages: 1077-1082.


Jaouadi, H.  et al. 2018

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric...
- issue: - volume: 63 - pages: 1077--1082.


Shabana, n.  et al. 2018

Use of a gene score of multiple low-modest effect size variants can predict the risk of obesity better than the individual SNPs

BACKGROUND: Obesity is a complex disorder, the development of which is modulated by a multitude of environmental, behavioral and genetic factors. The common forms of obesity are polygenic in nature...
Lipids Health Dis - issue: 1 - volume: 17 - pages: 155.


Valdeolivas, A.  et al. 2018

Random Walk with Restart on Multiplex and Heterogeneous Biological Networks

Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,...
Bioinformatics - issue: - volume: - pages: .


Valdeolivas, A.  et al. 2018

Random Walk with Restart on Multiplex and Heterogeneous Biological Networks

Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,...
Bioinformatics - issue: - volume: - pages: .


Valdeolivas, A.  et al. 2018

Random walk with restart on multiplex and heterogeneous biological networks

- issue: - volume: - pages: .


Guinde, J.  et al. 2018

Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or...
Cells - issue: 7 - volume: 7 - pages: .


Guinde, J.  et al. 2018

Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation?

Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or...
Cells - issue: 7 - volume: 7 - pages: .


Valence, S.  et al. 2018

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify...
Genet. Med. - issue: - volume: - pages: .


Valence, S.  et al. 2018

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

- issue: - volume: - pages: .


Didier, G.  et al. 2018

Identifying communities from multiplex biological networks by randomized optimization of modularity

The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification DREAM challenge established a framework to evaluate...
F1000Research - issue: - volume: 7 - pages: 1042.


Didier, G.  et al. 2018

Identifying communities from multiplex biological networks by randomized optimization of modularity

The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification established a framework to evaluate clustering...
- issue: - volume: 7 - pages: .