MMG PUBLICATIONS

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Results: 3379  publications found.

Soheili, T.  et al. 2012

Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications

Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (alpha-, beta-, gamma-, and...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

Kichine, E.  et al. 2012

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

BACKGROUND: Recurrent AZFb deletions on the human Y chromosome are associated with an absence of ejaculated spermatozoa consequent to a meiotic maturation arrest that prevents the progression of germ...
Hum. Reprod. - issue: 2 - volume: 27 - pages: 615-624.

Samadi, A.  et al. 2012

Surgical management of patients with Marfan syndrome: Evolution throughout the years

Aim. To evaluate the evolution of surgical management in a large population of patients with Marfan syndrome. Methods. This is a retrospective study of patients fulfilling the Ghent criteria for...
Arch. Cardiovasc. Dis. - issue: 2 - volume: 105 - pages: 84-90.

Soheili, T.  et al. 2012

Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications

Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (alpha-, beta-, gamma-, and...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

Soheili, T.  et al. 2012

Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications

Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (alpha-, beta-, gamma-, and...
Hum. Mutat. - issue: 2 - volume: 33 - pages: 429-439.

Golzio, C.  et al. 2012

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS One - issue: 1 - volume: 7 - pages: e30677.

Dubar, F.  et al. 2012

In situ nanochemical imaging of label-free drugs: a case study of antimalarials in Plasmodium falciparum-infected erythrocytes

We report here for the first time the in vitro localization of unlabeled antimalarial drugs with high spatial resolution. This strategy further enhances our understanding of the action mechanisms of...
Chem. Commun. (Camb.) - issue: 6 - volume: 48 - pages: 910-912.

Jondeau, G.  et al. 2012

Aortic Event Rate in the Marfan Population A Cohort Study

Background-Optimal management, including timing of surgery, remains debated in Marfan syndrome because of a lack of data on aortic risk associated with this disease. Methods and Results-We used our...
Circulation - issue: 2 - volume: 125 - pages: 226-232.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Maalouf, D.  et al. 2012

A Novel Mutation in the PORCN Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia

Background: Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that...
Arch. Dermatol. - issue: 1 - volume: 148 - pages: 85-88.

Roux, J.  et al. 2012

[Unexpected link between Huntington disease and Rett syndrome]

Med Sci (Paris) - issue: 1 - volume: 28 - pages: 44-46.

Roux, J.  et al. 2012

[Unexpected link between Huntington disease and Rett syndrome].

Med Sci (Paris) - issue: 1 - volume: 28 - pages: 44-46.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Bartoli, M.  et al. 2012

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Clin. Genet. - issue: 1 - volume: 81 - pages: 99-101.

Roux, J.  et al. 2012

[Unexpected link between Huntington disease and Rett syndrome]

Med Sci (Paris) - issue: 1 - volume: 28 - pages: 44-46.

Habeler, W.  et al. 2011

Direct myocardial implantation of human embryonic stem cells in a dog model of Duchenne cardiomyopathy reveals poor cell survival in dystrophic tissue

Duchenne muscular dystrophy is characterized by progressive muscle weakness and early death resulting from dystrophin deficiency. Spontaneous canine muscular disorders are interesting settings to...
J Stem Cells Regen Med - issue: 2 - volume: 7 - pages: 80-86.

Diman, NYS.  et al. 2011

A retinoic acid responsive Hoxa3 transgene expressed in embryonic pharyngeal endoderm, cardiac neural crest and a subdomain of the second heart field

A transgenic mouse line harbouring a β-galacdosidase reporter gene controlled by the proximal 2 kb promoter of Hoxa3 was previously generated to investigate the regulatory cues governing Hoxa3...
PLoS ONE - issue: 11 - volume: 6 - pages: e27624.

Molina, L.  et al. 2011

Analysis of the variability of human normal urine by 2D-GE reveals a "public" and a "private" proteome

The characterization of the normal urinary proteome is steadily progressing and represents a major interest in the assessment of clinical urinary biomarkers. To estimate quantitatively the variability...
J Proteomics - issue: 1 - volume: 75 - pages: 70-80.