PUBLICATIONS MMG

Veuillez utiliser l'outil ci-dessous pour consulter nos publications par mots clés et/ou par équipe et/ou par année.

Suivez les liens pour consulter les publications sur le site de PubMed.



Rechercher une publication





Résultats : 1693  publications trouvées.

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: .


Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.


Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.


Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.


Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.


Mignon-Ravix, C.  et al. 2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.


Mignon-Ravix, C.  et al. 2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
- issue: 7 - volume: 39 - pages: 934-938.


Geoffron, S.  et al. 2018

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal...
- issue: 7 - volume: 103 - pages: 2436 - 2446.


Desvignes, J.  et al. 2018

VarAFT: a variant annotation and filtration system for human next generation sequencing data

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
- issue: W1 - volume: 46 - pages: W545-W553.


Papoutsi, T.  et al. 2018

Bmp2 and Notch cooperate to pattern the embryonic endocardium

Signaling interactions between the myocardium and endocardium pattern embryonic cardiac regions, instructing their development to fulfill specific functions in the mature heart. We show that ectopic...
- issue: 13 - volume: 145 - 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)

- issue: - volume: - pages: .