MMG PUBLICATIONS

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Results: 2478  publications found.

Ryckebüsch, L.  et al. 2010

Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome

RATIONALE: Loss of Tbx1 and decrease of retinoic acid (RA) synthesis result in DiGeorge/velocardiofacial syndrome (DGS/VCFS)-like phenotypes in mouse models, including defects in septation of the...
Circ. Res. - issue: 4 - volume: 106 - pages: 686-694.


Thienpont, B.  et al. 2010

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

BACKGROUND: The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed...
J. Med. Genet. - issue: 3 - volume: 47 - pages: 155-161.


Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Joe, AWB.  et al. 2010

Muscle injury activates resident fibro/adipogenic progenitors that facilitate myogenesis

Efficient tissue regeneration is dependent on the coordinated responses of multiple cell types. Here, we describe a new subpopulation of fibro/adipogenic progenitors (FAPs) resident in muscle tissue...
Nat. Cell Biol. - issue: 2 - volume: 12 - pages: 153-163.


Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Krahn, M.  et al. 2010

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet Test Mol Biomarkers - issue: 1 - volume: 14 - pages: 153-154.


Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Krahn, M.  et al. 2010

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet Test Mol Biomarkers - issue: 1 - volume: 14 - pages: 153-154.


Uezumi, A.  et al. 2010

Mesenchymal progenitors distinct from satellite cells contribute to ectopic fat cell formation in skeletal muscle

Ectopic fat deposition in skeletal muscle is closely associated with several disorders, however, the origin of these adipocytes is not clear, nor is the mechanism of their formation. Satellite cells...
Nat. Cell Biol. - issue: 2 - volume: 12 - pages: 143-152.


Joe, AWB.  et al. 2010

Muscle injury activates resident fibro/adipogenic progenitors that facilitate myogenesis

Efficient tissue regeneration is dependent on the coordinated responses of multiple cell types. Here, we describe a new subpopulation of fibro/adipogenic progenitors (FAPs) resident in muscle tissue...
Nat. Cell Biol. - issue: 2 - volume: 12 - pages: 153-163.


Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Mignon-Ravix, C.  et al. 2010

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

BACKGROUND: Malformations of cortical development are not rare and cause a wide spectrum of neurological diseases based on the affected region in the cerebral cortex. A significant proportion of these...
J. Med. Genet. - issue: 2 - volume: 47 - pages: 132-136.


Krahn, M.  et al. 2010

Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet. Test. Mol. Biomark. - issue: 1 - volume: 14 - pages: 153-154.


Wein, N.  et al. 2010

Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 213 and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Ottaviani, A.  et al. 2010

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently...
Nucleus - issue: 1 - volume: 1 - pages: 30-36.


Krahn, M.  et al. 2010

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet Test Mol Biomarkers - issue: 1 - volume: 14 - pages: 153-154.


Wein, N.  et al. 2010

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 2B and Miyoshi myopathy. More...
Hum. Mutat. - issue: 2 - volume: 31 - pages: 136-142.


Wein, N.  et al. 2010

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

Dysferlinopathies are autosomal recessive muscular dystrophies caused by DYSF mutations, which lead to a reduced amount or a complete lack of dysferlin. One step in dysferlinopathies diagnosis...
Neuromuscul. Disord. - issue: 1 - volume: 20 - pages: 57-60.


Roux, J.  et al. 2010

Biogenic amines in Rett syndrome: the usual suspects

Rett syndrome (RTT) is a severe postnatal neurological disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. In affected children, most biological parameters, including brain...
Behav. Genet. - issue: 1 - volume: 40 - pages: 59-75.