PUBLICATIONS MMG

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Résultats : 2278  publications trouvées.

Mégarbané, A.  et al. 2014

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

We report on a consanguineous Lebanese family in which two sibs had pre- and post-natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed...
Am. J. Med. Genet. A - issue: 4 - volume: 164A - pages: 1010-1014.


Mégarbané, A.  et al. 2014

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

We report on a consanguineous Lebanese family in which two sibs had pre- and post-natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed...
Am. J. Med. Genet. A - issue: 4 - volume: 164A - pages: 1010-1014.


Etchevers, HC.  et al. 2014

Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system...
J. Invest. Dermatol. - issue: 4 - volume: 134 - pages: 879-882.


Caron, PJ.  et al. 2014

Tumor shrinkage with lanreotide Autogel 120 mg as primary therapy in acromegaly: results of a prospective multicenter clinical trial

CONTEXT: Methodological shortcomings often compromise investigations into the effects of primary somatostatin-analog treatment on tumor size in acromegaly. There are also limited data for the...
J. Clin. Endocrinol. Metab. - issue: 4 - volume: 99 - pages: 1282-1290.


McDade, JR.  et al. 2014

Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin

Mutations in the dysferlin gene resulting in dysferlin-deficiency lead to limb-girdle muscular dystrophy 2B and Myoshi myopathy in humans. Dysferlin has been proposed as a critical regulator of...
Hum. Mol. Genet. - issue: 7 - volume: 23 - pages: 1677-1686.


Boennemann, CG.  et al. 2014

Diagnostic approach to the congenital muscular dystrophies

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great...
Neuromusc. Disord. - issue: 4 - volume: 24 - pages: 289-311.


Etchevers, HC.  et al. 2014

Hiding in Plain Sight: Molecular Genetics Applied to Giant Congenital Melanocytic Nevi

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system...
- issue: 4 - volume: 134 - pages: 879-882.


Maurice, DH.  et al. 2014

Cyclic nucleotide phosphodiesterases (PDEs): coincidence detectors acting to spatially and temporally integrate cyclic nucleotide and non-cyclic nucleotide signals

The cyclic nucleotide second messengers cAMP and cGMP each affect virtually all cellular processes. Although these hydrophilic small molecules readily diffuse throughout cells, it is remarkable that...
Biochem. Soc. Trans. - issue: - volume: 42 - pages: 250-256.


Cau, P.  et al. 2014

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.semcdb.2014.03.022. The duplicate article has therefore...
Semin. Cell Dev. Biol. - issue: - volume: - pages: .


Cau, P.  et al. 2014

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.semcdb.2014.03.022. The duplicate article has therefore...
Semin. Cell Dev. Biol. - issue: - volume: - pages: .


Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.


Vassallo, PF.  et al. 2014

Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression

Epidemiological and experimental studies indicate that early vascular dysfunction occurs in low-birth-weight subjects, especially preterm (PT) infants. We recently reported impaired angiogenic...
Blood - issue: 13 - volume: 123 - pages: 2116-2126.


El-Khoury, R.  et al. 2014

GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

Proper brain functioning requires a fine-tuning between excitatory and inhibitory neurotransmission, a balance maintained through the regulation and release of glutamate and GABA. Rett syndrome (RTT)...
PLoS One - issue: 3 - volume: 9 - pages: e92169.


Cacciagli, P.  et al. 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker...
Eur. J. Hum. Genet. - issue: 3 - volume: 22 - pages: 363-368.


Cacciagli, P.  et al. 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker...
Eur. J. Hum. Genet. - issue: 3 - volume: 22 - pages: 363-368.


Jalkh, N.  et al. 2014

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy

PURPOSE: To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS: Clinical data were recorded for five patients of the 14...
Ophthalmic Genet. - issue: 1 - volume: 35 - pages: 57-62.


Jalkh, N.  et al. 2014

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy

PURPOSE: To identify the genetic basis of a recessive inheritance form of retinal dystrophy (RD) in a Lebanese family. MATERIALS AND METHODS: Clinical data were recorded for five patients of the 14...
Ophthalmic Genet. - issue: 1 - volume: 35 - pages: 57-62.


Colao, A.  et al. 2014

Pasireotide versus octreotide in acromegaly: a head-to-head superiority study

CONTEXT: Biochemical control reduces morbidity and increases life expectancy in patients with acromegaly. With current medical therapies, including the gold standard octreotide long-acting-release...
J. Clin. Endocrinol. Metab. - issue: 3 - volume: 99 - pages: 791-799.


Defour, A.  et al. 2014

Imaging Cell Membrane Injury and Subcellular Processes Involved in Repair

The ability of injured cells to heal is a fundamental cellular process, but cellular and molecular mechanisms involved in healing injured cells are poorly understood. Here assays are described to...
J. Vis. Exp. - issue: 85 - volume: - pages: e51106.


Defour, A.  et al. 2014

Imaging Cell Membrane Injury and Subcellular Processes Involved in Repair

The ability of injured cells to heal is a fundamental cellular process, but cellular and molecular mechanisms involved in healing injured cells are poorly understood. Here assays are described to...
J. Vis. Exp. - issue: 85 - volume: - pages: e51106.