PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Juge, P.  et al. 2017

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF)...
Eur. Respir. J. - issue: 5 - volume: 49 - pages: .

Maione, L.  et al. 2017

Changes in the management and comorbidities of acromegaly over three decades: the French Acromegaly Registry

CONTEXT: Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN: The French Registry contains data on...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 645-655.

Wolff, M.  et al. 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71...
Brain - issue: 5 - volume: 140 - pages: 1316-1336.

Ronin, C.  et al. 2017

Antenatal prognostic factor of fetal echogenic bowel

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary...
Eur. J. Obstet. Gynecol. Reprod. Biol. - issue: - volume: 212 - pages: 166-170.

Roubertoux, PL.  et al. 2017

Erratum to: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

Behav. Genet. - issue: 3 - volume: 47 - pages: 323.

Roubertoux, PL.  et al. 2017

Erratum to: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

Behav. Genet. - issue: 3 - volume: 47 - pages: 323.

Fabre, A.  et al. 2017

Somatic mutation, a cause of biliary atresia: A hypothesis

Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary...
Med. Hypotheses - issue: - volume: 102 - pages: 91-93.

Wolff, M.  et al. 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71...
Brain - issue: 5 - volume: 140 - pages: 1316-1336.

Roubertoux, PL.  et al. 2017

Erratum to: Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

Behav. Genet. - issue: 3 - volume: 47 - pages: 323.

Juge, P.  et al. 2017

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF)...
Eur. Respir. J. - issue: 5 - volume: 49 - pages: .

Fabre, A.  et al. 2017

Somatic mutation, a cause of biliary atresia: A hypothesis

Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary...
Med. Hypotheses - issue: - volume: 102 - pages: 91-93.

Fabre, A.  et al. 2017

Somatic mutation, a cause of biliary atresia: A hypothesis

Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary...
Med. Hypotheses - issue: - volume: 102 - pages: 91-93.

González, W.  et al. 2017

Theoretical dosimetric evaluation of carbon and oxygen minibeam radiation therapy

PURPOSE: Charged particles have several advantages over x-ray radiations, both in terms of physics and radiobiology. The combination of these advantages with those of minibeam radiation therapy (MBRT)...
Med Phys - issue: 5 - volume: 44 - pages: 1921-1929.

Corrigan, S.  et al. 2017

Historical introgression drives pervasive mitochondrial admixture between two species of pelagic sharks

We use a genomic sampling of both nuclear and mitochondrial DNA markers to examine a pattern of genetic admixture between Carcharhinus galapagensis (Galapagos sharks) and Carcharhinus obscurus (dusky...
Mol. Phylogenet. Evol. - issue: - volume: 110 - pages: 122-126.

Villeneuve, N.  et al. 2017

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially...
Eur. J. Paediatr. Neurol. - issue: - volume: - pages: .

Charrier, A.  et al. 2017

Clock Genes and Altered Sleep-Wake Rhythms: Their Role in the Development of Psychiatric Disorders

In mammals, the circadian clocks network (central and peripheral oscillators) controls circadian rhythms and orchestrates the expression of a range of downstream genes, allowing the organism to...
Int J Mol Sci - issue: 5 - volume: 18 - pages: .

Charrier, A.  et al. 2017

Clock Genes and Altered Sleep-Wake Rhythms: Their Role in the Development of Psychiatric Disorders

In mammals, the circadian clocks network (central and peripheral oscillators) controls circadian rhythms and orchestrates the expression of a range of downstream genes, allowing the organism to...
Int J Mol Sci - issue: 5 - volume: 18 - pages: .

Villeneuve, N.  et al. 2017

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially...
Eur. J. Paediatr. Neurol. - issue: - volume: - pages: .

Villeneuve, N.  et al. 2017

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially...
Eur. J. Paediatr. Neurol. - issue: - volume: - pages: .

Charrier, A.  et al. 2017

Clock Genes and Altered Sleep-Wake Rhythms: Their Role in the Development of Psychiatric Disorders

In mammals, the circadian clocks network (central and peripheral oscillators) controls circadian rhythms and orchestrates the expression of a range of downstream genes, allowing the organism to...
Int J Mol Sci - issue: 5 - volume: 18 - pages: .