PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Lacoste, C.  et al. 2016

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Sevy, A.  et al. 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-U116.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Nishikawa, A.  et al. 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Milh, M.  et al. 2016

Severe neonatal seizures: From molecular diagnosis to precision therapy?

Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic point of view, several dozen of genes...
Rev. Neurol. (Paris) - issue: 3 - volume: 172 - pages: 171-173.

Lacoste, C.  et al. 2016

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

WOS:000372660600027
J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Nishikawa, A.  et al. 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain - issue: Pt 3 - volume: 139 - pages: e20.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

WOS:000371694600006
Brain - issue: - volume: 139 - pages: e20.

Lacoste, C.  et al. 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

J. Genet. - issue: 1 - volume: 95 - pages: 203-208.

Yoon, G.  et al. 2016

Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Brain - issue: Pt 3 - volume: 139 - pages: e20.

Nishikawa, A.  et al. 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy

INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction. METHODS: Subjects included 48...
Muscle Nerve - issue: 3 - volume: 53 - pages: 394-401.

Sevy, A.  et al. 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

J. Neurol. Neurosurg. Psychiatry - issue: 3 - volume: 87 - pages: 340-342.

Smith, PM.  et al. 2016

Leptin influences the excitability of area postrema neurons

The area postrema (AP) is a circumventricular organ with important roles in central autonomic regulation. This medullary structure has been shown to express the leptin receptor and has been suggested...
Am. J. Physiol.-Regul. Integr. Comp. Physiol. - issue: 5 - volume: 310 - pages: R440-R448.

El Robrini, N.  et al. 2016

Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages

BACKGROUND: Retinoic acid (RA), the bioactive derivative of vitamin A, is essential for vertebrate heart development. Both excess and reduced RA signaling lead to cardiovascular malformations...
Dev. Dyn. - issue: 3 - volume: 245 - pages: 388-401.

Schmitt, J.  et al. 2016

A Theranostic Agent Combining a Two-Photon-Absorbing Photosensitizer for Photodynamic Therapy and a Gadolinium(III) Complex for MRI Detection

The convergent synthesis and characterization of a potential theranostic agent, [DPP-ZnP-GdDOTA](-), which combines a diketopyrrolopyrrole-porphyrin component DPP-ZnP as a two-photon photosensitizer...
Chemistry - issue: 8 - volume: 22 - pages: 2775-2786.

Schmitt, J.  et al. 2016

A Theranostic Agent Combining a Two-Photon-Absorbing Photosensitizer for Photodynamic Therapy and a Gadolinium(III) Complex for MRI Detection

The convergent synthesis and characterization of a potential theranostic agent, [DPP-ZnP-GdDOTA](-), which combines a diketopyrrolopyrrole-porphyrin component DPP-ZnP as a two-photon photosensitizer...
Chemistry - issue: 8 - volume: 22 - pages: 2775-2786.

Blondel, S.  et al. 2016

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by a dramatic appearance of premature aging. HGPS is due to a single-base substitution in exon 11 of the LMNA gene...
Cell Death Dis - issue: - volume: 7 - pages: e2105.

Blondel, S.  et al. 2016

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by a dramatic appearance of premature aging. HGPS is due to a single-base substitution in exon 11 of the LMNA gene...
Cell Death Dis - issue: - volume: 7 - pages: e2105.