MMG PUBLICATIONS

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Results: 2278  publications found.

Poulton, CJ.  et al. 2014

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Mutations in WDR62 are associated with primary microcephaly; however, they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate...
Am. J. Med. Genet. A - issue: 9 - volume: 164A - pages: 2161-2171.


Pivonello, R.  et al. 2014

Pasireotide treatment significantly improves clinical signs and symptoms in patients with Cushing's disease: results from a Phase III study

OBJECTIVE: Signs and symptoms of Cushing's disease are associated with high burden of illness. In this analysis, we evaluated the effect of pasireotide treatment on signs and symptoms in patients with...
Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 408-417.


Popovici, C.  et al. 2014

Whole ARX gene duplication is compatible with normal intellectual development

We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males...
Am. J. Med. Genet. A - issue: 9 - volume: 164A - pages: 2324-2327.


Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.


Bakiri, F.  et al. 2014

Pituitary apoplexy after somatostatin analogue administration: coincidental or causative?

Clin. Endocrinol. (Oxf) - issue: 3 - volume: 81 - pages: 471-473.


Jaka, O.  et al. 2014

Entire Capn3 Gene Deletion in a Patient with Limb-Girdle Muscular Dystrophy Type 2a

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.


Desgeorges, MM.  et al. 2014

Post-transcriptional regulation of autophagy in C2C12 myotubes following starvation and nutrient restoration

In skeletal muscle, autophagy is activated in multiple physiological and pathological conditions, notably through the transcriptional regulation of autophagy-related genes by FoxO3. However, recent...
Int. J. Biochem. Cell Biol. - issue: - volume: 54 - pages: 208-216.


Desgeorges, MM.  et al. 2014

Post-transcriptional regulation of autophagy in C2C12 myotubes following starvation and nutrient restoration

In skeletal muscle, autophagy is activated in multiple physiological and pathological conditions, notably through the transcriptional regulation of autophagy-related genes by FoxO3. However, recent...
Int. J. Biochem. Cell Biol. - issue: - volume: 54 - pages: 208-216.


Jaka, O.  et al. 2014

Entire Capn3 Gene Deletion in a Patient with Limb-Girdle Muscular Dystrophy Type 2a

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.


Eckard, SC.  et al. 2014

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Sensors of the innate immune system that detect intracellular nucleic acids must be regulated to prevent inappropriate activation by endogenous DNA and RNA. The exonuclease Trex1 regulates the...
Nat. Immunol. - issue: 9 - volume: 15 - pages: 839-845.


Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.


Jaka, O.  et al. 2014

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a...
Muscle Nerve - issue: 3 - volume: 50 - pages: 448-453.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Objective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Objective: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.


Gaillard, M.  et al. 2014

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

OBJECTIVE: We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and...
Neurology - issue: 8 - volume: 83 - pages: 733-742.