MMG PUBLICATIONS

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Results: 1350  publications found.

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.


Lacoste, C.  et al. 2017

Next-generation DNA sequencing in clinical diagnostics

The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to rethink their diagnostic strategies,...
Arch. Pediatr. - issue: 4 - volume: 24 - pages: 373-383.


Lacoste, C.  et al. 2017

[Next-generation DNA sequencing in clinical diagnostics]

The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to rethink their diagnostic strategies,...
Arch Pediatr - issue: 4 - volume: 24 - pages: 373-383.


Lacoste, C.  et al. 2017

[Next-generation DNA sequencing in clinical diagnostics]

The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to rethink their diagnostic strategies,...
Arch Pediatr - issue: 4 - volume: 24 - pages: 373-383.


Franck, SE.  et al. 2017

A multivariable prediction model for pegvisomant dosing: monotherapy and in combination with long-acting somatostatin analogues

BACKGROUND: Effective treatment of acromegaly with pegvisomant (PEGV), a growth hormone receptor antagonist, requires an appropriate dose titration. PEGV doses vary widely among individual patients,...
Eur. J. Endocrinol. - issue: 4 - volume: 176 - pages: 421-430.


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.


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: - volume: - pages: .


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: - volume: - pages: .


Cerino, M.  et al. 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: - volume: - pages: .


Cerino, M.  et al. 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: - volume: - pages: .


Cerino, M.  et al. 2017

Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: - volume: - pages: .


Cerino, M.  et al. 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic...
Muscle Nerve - issue: - volume: - pages: .