MMG PUBLICATIONS

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Results: 4167  publications found.

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: .

Balducci, E.  et al. 2017

Interphase FISH for BCR-ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR-ABL1 positive acute lymphoblastic leukemia

Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this...
Hematol Oncol - issue: - volume: - pages: .

Balducci, E.  et al. 2017

Interphase FISH for BCR-ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR-ABL1 positive acute lymphoblastic leukemia

Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this...
Hematol Oncol - issue: - volume: - pages: .

Balducci, E.  et al. 2017

Interphase FISH for BCR-ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR-ABL1 positive acute lymphoblastic leukemia

Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this...
Hematol Oncol - issue: - volume: - pages: .

Farré, Y.  et al. 2017

A Blue Diketopyrrolopyrrole Sensitizer with High Efficiency in Nickel-Oxide-based Dye-Sensitized Solar Cells

We prepared a series of four new diketopyrrolopyrroles (DPPs)-based sensitizers that exhibit high-molar extinction coefficients, extended absorption into the long wavelengths, and well-suited...
ChemSusChem - issue: - volume: - pages: .

Farré, Y.  et al. 2017

A Blue Diketopyrrolopyrrole Sensitizer with High Efficiency in Nickel-Oxide-based Dye-Sensitized Solar Cells

We prepared a series of four new diketopyrrolopyrroles (DPPs)-based sensitizers that exhibit high-molar extinction coefficients, extended absorption into the long wavelengths, and well-suited...
ChemSusChem - issue: - volume: - pages: .

Farré, Y.  et al. 2017

A Blue Diketopyrrolopyrrole Sensitizer with High Efficiency in Nickel-Oxide-based Dye-Sensitized Solar Cells

We prepared a series of four new diketopyrrolopyrroles (DPPs)-based sensitizers that exhibit high-molar extinction coefficients, extended absorption into the long wavelengths, and well-suited...
ChemSusChem - issue: - volume: - pages: .

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.